R44Q (p.Arg44Gln) variant of SPTB (Spectrin beta chain, erythrocytic)
R44Q (p.Arg44Gln) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar 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 0.69 / 1. The record also includes population frequency data.
R44Q (p.Arg44Gln) variant details
- p.Arg44Gln
- TOPMed rs1351487127
- gnomAD rs1351487127
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- MetaLR 0.41
- MetaSVM -0.06
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available