R83Q (p.Arg83Gln) variant of SPTB (Spectrin beta chain, erythrocytic)
R83Q (p.Arg83Gln) 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 0.65 / 1. The record also includes population frequency data.
R83Q (p.Arg83Gln) variant details
- p.Arg83Gln
- rs750849788
- ClinGen CA7231503
- ClinVar RCV003480084
- ExAC rs750849788
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- MetaLR 0.29
- MetaSVM -0.50
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available