V71M (p.Val71Met) variant of SPTB (Spectrin beta chain, erythrocytic)
V71M (p.Val71Met) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
V71M (p.Val71Met) variant details
- p.Val71Met
- 1000Genomes rs199910491
- ExAC rs199910491
- TOPMed rs199910491
- gnomAD rs199910491
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- MetaLR 0.36
- MetaSVM -0.25
- CADD 24.30
- PolyPhen-2 0.92
- SIFT 0.05
- Population evidence available