A4V (p.Ala4Val) variant of CNTNAP2 (Q9UHC6)
A4V (p.Ala4Val) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- Ensembl rs1584757090
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.16
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available