A43T (p.Ala43Thr) variant of SPTBN4 (Q9H254)
A43T (p.Ala43Thr) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- gnomAD 19-40472748-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- MetaLR 0.33
- MetaSVM -0.33
- CADD 22.30
- PolyPhen-2 0.76
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available