A42E (p.Ala42Glu) variant of SPTBN4 (Q9H254)
A42E (p.Ala42Glu) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A42E (p.Ala42Glu) variant details
- p.Ala42Glu
- gnomAD 19-40472746-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- MetaLR 0.31
- MetaSVM -0.44
- CADD 14.30
- PolyPhen-2 0.18
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available