A69V (p.Ala69Val) variant of SPTB (Spectrin beta chain, erythrocytic)
A69V (p.Ala69Val) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
A69V (p.Ala69Val) variant details
- p.Ala69Val
- ExAC rs767062363
- TOPMed rs767062363
- gnomAD rs767062363
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- MetaLR 0.67
- MetaSVM 0.09
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available