S50Y (p.Ser50Tyr) variant of SPTBN4 (Q9H254)
S50Y (p.Ser50Tyr) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S50Y (p.Ser50Tyr) variant details
- p.Ser50Tyr
- gnomAD 19-40472770-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- MetaLR 0.46
- MetaSVM -0.04
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available