R22G (p.Arg22Gly) variant of SPTB (Spectrin beta chain, erythrocytic)
R22G (p.Arg22Gly) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
R22G (p.Arg22Gly) variant details
- p.Arg22Gly
- ESP rs199850904
- ExAC rs199850904
- TOPMed rs199850904
- gnomAD rs199850904
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- MetaLR 0.50
- MetaSVM 0.04
- CADD 25.10
- PolyPhen-2 0.02
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available