A54D (p.Ala54Asp) variant of SPTBN4 (Q9H254)
A54D (p.Ala54Asp) 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.
A54D (p.Ala54Asp) variant details
- p.Ala54Asp
- gnomAD 19-40472782-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- MetaLR 0.38
- MetaSVM -0.35
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available