R22C (p.Arg22Cys) variant of SPTB (Spectrin beta chain, erythrocytic)
R22C (p.Arg22Cys) 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 0.75 / 1. The record also includes population frequency data.
R22C (p.Arg22Cys) variant details
- p.Arg22Cys
- rs199850904
- ClinVar RCV004575172
- ESP rs199850904
- ExAC rs199850904
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- MetaLR 0.62
- MetaSVM 0.32
- CADD 32.00
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available