A25S (p.Ala25Ser) variant of SPTB (Spectrin beta chain, erythrocytic)
A25S (p.Ala25Ser) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- cosmic curated COSV67632
- ExAC rs771875005
- gnomAD rs771875005
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- MetaLR 0.11
- MetaSVM -1.08
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.13
- Population evidence available