S30Y (p.Ser30Tyr) variant of CNTNAP2 (Q9UHC6)
S30Y (p.Ser30Tyr) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S30Y (p.Ser30Tyr) variant details
- p.Ser30Tyr
- gnomAD 7-146116965-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.20
- MetaLR 0.42
- MetaSVM -0.35
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available