S50S (p.Ser50Ser) variant of SPTBN4 (Q9H254)
S50S (p.Ser50Ser) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S50S (p.Ser50Ser) variant details
- p.Ser50Ser
- gnomAD 19-40472771-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.224
- CADD 9.38
- Population evidence available
- Structural context available
- Literature evidence available