Variant Summary
- Also known as
- Y641F,TYR641PHE,TYR646PHE
- HGVS
- ENST00000320356.7:c.1937A>T,NC_000007.14:g.148811635T>A,NC_000007.13:g.148508727T>A,ENSP00000320147.2:p.Tyr646Phe,ENST00000460911.5:c.1922A>T,ENSP00000419711.1:p.Tyr641Phe,NM_004456.5:c.1937A>T,NP_004447.2:p.Tyr646Phe,NM_001203247.2:c.1922A>T,NP_001190176.1:p.Tyr641Phe
- Variant Type(s)
- missense_variant
- Evidence Items
- 3
Evidence Level Distribution
Level D: 3
Evidence Items
Showing CIViC evidence rows where gene = EZH2 and variant = Y646F.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| D | Oncogenic | Supports | Oncogenicity | B-cell Lymphoma | 4 | |
| D | Functional | Supports | Gain of Function | 3 | ||
| D | Functional | Supports | Loss of Function | 3 |