R78C (p.Arg78Cys) variant of GBA1 (P04062)
R78C (p.Arg78Cys) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Gaucher disease; Parkinson disease, late-onset. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R78C (p.Arg78Cys) variant details
- p.Arg78Cys
- rs146774384
- ClinGen CA1141809
- cosmic curated COSV10051
- ClinVar RCV003155523
- Uncertain significance
- not specified; Gaucher disease; Parkinson disease, late-onset
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.55
- CADD 25.80
- PolyPhen-2 0.83
- SIFT 0.11
- ClinVar: Uncertain significance (not specified; Gaucher disease; Parkinson disease, late-onset)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)