L82V (p.Leu82Val) variant of CHD7 (Q9P2D1)
L82V (p.Leu82Val) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L82V (p.Leu82Val) variant details
- p.Leu82Val
- gnomAD 8-60741676-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.03
- MetaLR 0.12
- MetaSVM -0.97
- CADD 16.80
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available