A69D (p.Ala69Asp) variant of SPTB (Spectrin beta chain, erythrocytic)
A69D (p.Ala69Asp) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
A69D (p.Ala69Asp) variant details
- p.Ala69Asp
- ExAC rs767062363
- TOPMed rs767062363
- gnomAD rs767062363
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- MetaLR 0.76
- MetaSVM 0.61
- CADD 24.70
- PolyPhen-2 0.47
- SIFT 0.00
- Population evidence available