A25S (p.Ala25Ser) variant of CNTNAP2 (Q9UHC6)
A25S (p.Ala25Ser) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- gnomAD 7-146116949-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.23
- MetaLR 0.45
- MetaSVM -0.40
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available