C112F (p.Cys112Phe) variant of SPTB (Spectrin beta chain, erythrocytic)
C112F (p.Cys112Phe) 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 and structural context.
C112F (p.Cys112Phe) variant details
- p.Cys112Phe
- TOPMed rs1285245929
- gnomAD rs1285245929
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- MetaLR 0.29
- MetaSVM -0.48
- CADD 26.10
- PolyPhen-2 0.85
- SIFT 0.00
- Population evidence available
- Structural context available