S32Y (p.Ser32Tyr) variant of CNTNAP2 (Q9UHC6)
S32Y (p.Ser32Tyr) 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.
S32Y (p.Ser32Tyr) variant details
- p.Ser32Tyr
- gnomAD 7-146116971-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.32
- MetaLR 0.45
- MetaSVM -0.39
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available