A25V (p.Ala25Val) variant of CNTNAP2 (Q9UHC6)
A25V (p.Ala25Val) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- gnomAD 7-146116950-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.40
- MetaLR 0.45
- MetaSVM -0.28
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available