Variant Summary
- Also known as
- GLU483GLY
- HGVS
- NC_000002.11:g.47690231A>G,ENST00000233146.2:c.1448A>G
- Variant Type(s)
- missense_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = MSH2 and variant = E483G.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Oncogenic | Supports | Oncogenicity | Endometrial Cancer | 1 |