K124R (p.Lys124Arg) variant of SPTB (Spectrin beta chain, erythrocytic)
K124R (p.Lys124Arg) 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 0.29 / 1. The record also includes population frequency data.
K124R (p.Lys124Arg) variant details
- p.Lys124Arg
- ExAC rs756588085
- TOPMed rs756588085
- gnomAD rs756588085
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- MetaLR 0.16
- MetaSVM -1.00
- CADD 21.70
- PolyPhen-2 0.04
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available