R434C (p.Arg434Cys) variant of GBA1 (P04062)
R434C (p.Arg434Cys) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gaucher disease; Parkinson disease, late-onset. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R434C (p.Arg434Cys) variant details
- p.Arg434Cys
- rs747284798
- ClinGen CA342713359
- NCI-TCGA Cosmic COSV5917
- cosmic curated COSV59170
- Likely pathogenic
- Gaucher disease; Parkinson disease, late-onset
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.81
- CADD 29.00
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Likely pathogenic (Gaucher disease; Parkinson disease, late-onset)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)