R144C (p.Arg144Cys) variant of SPTB (Spectrin beta chain, erythrocytic)
R144C (p.Arg144Cys) 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 0.53 / 1. The record also includes population frequency data.
R144C (p.Arg144Cys) variant details
- p.Arg144Cys
- rs547207486
- ClinGen CA7231456
- cosmic curated COSV67631
- ClinVar RCV002261486
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- MetaLR 0.25
- MetaSVM -0.43
- CADD 23.80
- PolyPhen-2 0.31
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available