A54S (p.Ala54Ser) variant of SPTBN4 (Q9H254)
A54S (p.Ala54Ser) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A54S (p.Ala54Ser) variant details
- p.Ala54Ser
- gnomAD 19-40472781-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- MetaLR 0.36
- MetaSVM -0.41
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available