A25T (p.Ala25Thr) variant of SPTB (Spectrin beta chain, erythrocytic)
A25T (p.Ala25Thr) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- ExAC rs771875005
- gnomAD rs771875005
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- MetaLR 0.16
- MetaSVM -1.02
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available