R52Q (p.Arg52Gln) variant of SPTB (Spectrin beta chain, erythrocytic)
R52Q (p.Arg52Gln) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- rs1452760098
- ClinGen CA390036242
- ClinVar RCV000756716
- gnomAD rs1452760098
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.85
- MetaLR 0.36
- MetaSVM -0.29
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.54
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance