R127H (p.Arg127His) variant of SPTB (Spectrin beta chain, erythrocytic)
R127H (p.Arg127His) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
R127H (p.Arg127His) variant details
- p.Arg127His
- rs779669473
- NCI-TCGA Cosmic COSV6762
- cosmic curated COSV67629
- ExAC rs779669473
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- MetaLR 0.15
- MetaSVM -0.91
- CADD 23.50
- PolyPhen-2 0.46
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available