R41C (p.Arg41Cys) variant of GBA1 (P04062)
R41C (p.Arg41Cys) in GBA1 (P04062) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R41C (p.Arg41Cys) variant details
- p.Arg41Cys
- rs190207858
- NCI-TCGA Cosmic COSV5917
- cosmic curated COSV59170
- 1000Genomes rs190207858
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.36
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available