A7V (p.Ala7Val) variant of CNTNAP2 (Q9UHC6)
A7V (p.Ala7Val) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- gnomAD 7-146116896-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.19
- MetaLR 0.40
- MetaSVM -0.72
- CADD 19.60
- PolyPhen-2 0.03
- SIFT 0.94
- Population evidence available
- Structural context available
- Literature evidence available