A4D (p.Ala4Asp) variant of CNTNAP2 (Q9UHC6)
A4D (p.Ala4Asp) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- gnomAD 7-146116887-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.23
- MetaLR 0.37
- MetaSVM -0.67
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available