A2V (p.Ala2Val) variant of CHD7 (Q9P2D1)
A2V (p.Ala2Val) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 8-60741437-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.19
- MetaLR 0.14
- MetaSVM -0.83
- CADD 23.50
- PolyPhen-2 0.21
- SIFT 0.00
- Population evidence available
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.472
- Literature evidence available