V34A (p.Val34Ala) variant of CHD7 (Q9P2D1)
V34A (p.Val34Ala) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V34A (p.Val34Ala) variant details
- p.Val34Ala
- gnomAD 8-60741533-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.14
- MetaLR 0.16
- MetaSVM -0.75
- CADD 21.80
- PolyPhen-2 0.09
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.251
- Literature evidence available