A56E (p.Ala56Glu) variant of SPTBN4 (Q9H254)
A56E (p.Ala56Glu) 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.
A56E (p.Ala56Glu) variant details
- p.Ala56Glu
- gnomAD 19-40472788-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- MetaLR 0.26
- MetaSVM -0.66
- CADD 29.70
- PolyPhen-2 0.80
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available