R74C (p.Arg74Cys) variant of SPTB (Spectrin beta chain, erythrocytic)
R74C (p.Arg74Cys) 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; Hereditary spherocytosis type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
R74C (p.Arg74Cys) variant details
- p.Arg74Cys
- rs575005279
- ClinGen CA7231513
- cosmic curated COSV10107
- ClinVar RCV001508738
- Uncertain significance
- not provided; Hereditary spherocytosis type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- MetaLR 0.41
- MetaSVM -0.09
- CADD 27.40
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hereditary spherocytosis type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available