A25D (p.Ala25Asp) variant of CNTNAP2 (Q9UHC6)
A25D (p.Ala25Asp) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A25D (p.Ala25Asp) variant details
- p.Ala25Asp
- gnomAD 7-146116950-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.49
- MetaLR 0.48
- MetaSVM -0.22
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available