V34L (p.Val34Leu) variant of CHD7 (Q9P2D1)
V34L (p.Val34Leu) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V34L (p.Val34Leu) variant details
- p.Val34Leu
- gnomAD 8-60741532-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -0.67
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.251
- Literature evidence available