D32V (p.Asp32Val) variant of CHD2 (O14647)
D32V (p.Asp32Val) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D32V (p.Asp32Val) variant details
- p.Asp32Val
- gnomAD 15-92924353-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.34
- MetaLR 0.59
- MetaSVM 0.18
- CADD 23.50
- PolyPhen-2 0.37
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available