A28S (p.Ala28Ser) variant of CNTNAP2 (Q9UHC6)
A28S (p.Ala28Ser) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- gnomAD 7-146116958-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.18
- MetaLR 0.46
- MetaSVM -0.36
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available