R52G (p.Arg52Gly) variant of SPTB (Spectrin beta chain, erythrocytic)
R52G (p.Arg52Gly) 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; SPTB-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1.
R52G (p.Arg52Gly) variant details
- p.Arg52Gly
- rs1594796374
- ClinGen CA390036248
- ClinVar RCV003408549
- ClinVar RCV005230501
- Uncertain significance
- not provided; SPTB-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.95
- MetaLR 0.32
- MetaSVM -0.42
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; SPTB-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance