L24V (p.Leu24Val) variant of CHD7 (Q9P2D1)
L24V (p.Leu24Val) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L24V (p.Leu24Val) variant details
- p.Leu24Val
- gnomAD 8-60741502-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.26
- MetaLR 0.55
- MetaSVM 0.17
- CADD 24.10
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.237
- Literature evidence available