L15V (p.Leu15Val) variant of CNTNAP2 (Q9UHC6)
L15V (p.Leu15Val) in CNTNAP2 (Q9UHC6) 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, published literature, and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- gnomAD 7-146116919-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.22
- MetaLR 0.38
- MetaSVM -0.43
- CADD 19.30
- PolyPhen-2 0.26
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available