T61M (p.Thr61Met) variant of SPTB (Spectrin beta chain, erythrocytic)
T61M (p.Thr61Met) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar 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 0.83 / 1. The record also includes population frequency data.
T61M (p.Thr61Met) variant details
- p.Thr61Met
- 1000Genomes rs532240291
- ExAC rs532240291
- TOPMed rs532240291
- gnomAD rs532240291
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- MetaLR 0.93
- MetaSVM 1.08
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available