V64M (p.Val64Met) variant of SPTB (Spectrin beta chain, erythrocytic)
V64M (p.Val64Met) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
V64M (p.Val64Met) variant details
- p.Val64Met
- rs1428890712
- ClinGen CA390036127
- ClinVar RCV003138757
- TOPMed rs1428890712
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- MetaLR 0.34
- MetaSVM -0.35
- CADD 25.30
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available