S45S (p.Ser45Ser) variant of SPTBN4 (Q9H254)
S45S (p.Ser45Ser) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S45S (p.Ser45Ser) variant details
- p.Ser45Ser
- gnomAD 19-40472756-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0855
- CADD 0.68
- Population evidence available
- Structural context available
- Literature evidence available