R109C (p.Arg109Cys) variant of SPTB (Spectrin beta chain, erythrocytic)
R109C (p.Arg109Cys) 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 0.75 / 1. The record also includes population frequency data.
R109C (p.Arg109Cys) variant details
- p.Arg109Cys
- rs139094636
- ClinGen CA7231471
- cosmic curated COSV67633
- ClinVar RCV001508737
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- MetaLR 0.61
- MetaSVM 0.51
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available