A56V (p.Ala56Val) variant of SPTBN4 (Q9H254)
A56V (p.Ala56Val) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- gnomAD 19-40472788-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- MetaLR 0.35
- MetaSVM -0.29
- CADD 35.00
- PolyPhen-2 0.63
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available