S50P (p.Ser50Pro) variant of SPTBN4 (Q9H254)
S50P (p.Ser50Pro) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S50P (p.Ser50Pro) variant details
- p.Ser50Pro
- gnomAD 19-40472769-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- MetaLR 0.40
- MetaSVM -0.14
- CADD 27.30
- PolyPhen-2 0.94
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available