L9V (p.Leu9Val) variant of CHD7 (Q9P2D1)
L9V (p.Leu9Val) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- gnomAD 8-60741457-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.08
- MetaLR 0.25
- MetaSVM -0.56
- CADD 22.70
- PolyPhen-2 0.40
- SIFT 0.00
- Population evidence available
- Structural context available
- CHD7 BRK domain domainome 1.0: score 0.0402
- Literature evidence available