R41C (p.Arg41Cys) variant of SPTBN2 (O15020)
R41C (p.Arg41Cys) in SPTBN2 (O15020) 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 0.49 / 1. The record also includes population frequency data.
R41C (p.Arg41Cys) variant details
- p.Arg41Cys
- rs1942382097
- ClinGen CA381485068
- ClinVar RCV002927017
- TOPMed rs1942382097
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.35
- CADD 26.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)