V164F (p.Val164Phe) variant of SPTB (Spectrin beta chain, erythrocytic)
V164F (p.Val164Phe) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
V164F (p.Val164Phe) variant details
- p.Val164Phe
- ExAC rs773327035
- TOPMed rs773327035
- gnomAD rs773327035
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- MetaLR 0.13
- MetaSVM -0.98
- CADD 20.30
- PolyPhen-2 0.11
- SIFT 0.00
- Population evidence available