M2V (p.Met2Val) variant of CHD2 (O14647)
M2V (p.Met2Val) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
M2V (p.Met2Val) variant details
- p.Met2Val
- gnomAD 15-92901241-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.44
- MetaLR 0.68
- MetaSVM 0.51
- CADD 25.70
- PolyPhen-2 0.82
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available