R535C (p.Arg535Cys) variant of GBA1 (P04062)
R535C (p.Arg535Cys) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Parkinson disease, late-onset; Gaucher disease type II; Gaucher disease type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R535C (p.Arg535Cys) variant details
- p.Arg535Cys
- rs747506979
- ClinGen CA1141476
- cosmic curated COSV10051
- ClinVar RCV000417294
- Pathogenic/Likely pathogenic
- Parkinson disease, late-onset; Gaucher disease type II; Gaucher disease type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.61
- AlphaMissense 0.15
- MetaLR 0.78
- MetaSVM 0.73
- CADD 26.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Parkinson disease, late-onset; Gaucher disease type II; Gaucher)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of… (PMID 1487244)
- Cited in: Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece. (PMID 32547927)