V18A (p.Val18Ala) variant of CNTNAP2 (Q9UHC6)
V18A (p.Val18Ala) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V18A (p.Val18Ala) variant details
- p.Val18Ala
- gnomAD 7-146116929-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.20
- MetaLR 0.42
- MetaSVM -0.48
- CADD 22.00
- PolyPhen-2 0.03
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available