A25V (p.Ala25Val) variant of SPTB (Spectrin beta chain, erythrocytic)
A25V (p.Ala25Val) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- ExAC rs745686199
- TOPMed rs745686199
- gnomAD rs745686199
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- MetaLR 0.17
- MetaSVM -0.93
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.32
- Population evidence available