A28D (p.Ala28Asp) variant of CNTNAP2 (Q9UHC6)
A28D (p.Ala28Asp) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- gnomAD 7-146116959-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.41
- MetaLR 0.42
- MetaSVM -0.46
- CADD 21.80
- PolyPhen-2 0.12
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available