R170C (p.Arg170Cys) variant of SPTB (Spectrin beta chain, erythrocytic)
R170C (p.Arg170Cys) 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 Elliptocytosis 3; Hereditary spherocytosis type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
R170C (p.Arg170Cys) variant details
- p.Arg170Cys
- rs370778123
- cosmic curated COSV67632
- ESP rs370778123
- TOPMed rs370778123
- Uncertain significance
- Elliptocytosis 3; Hereditary spherocytosis type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- MetaLR 0.27
- MetaSVM -0.44
- CADD 27.00
- PolyPhen-2 0.58
- SIFT 0.00
- ClinVar: Uncertain significance (Elliptocytosis 3; Hereditary spherocytosis type 2)
- UniProt: Uncertain significance
- Population evidence available