R83C (p.Arg83Cys) variant of GBA1 (P04062)
R83C (p.Arg83Cys) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gaucher disease type I; Gaucher disease type II; Gaucher disease type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R83C (p.Arg83Cys) variant details
- p.Arg83Cys
- rs1141812
- ClinGen CA1141805
- cosmic curated COSV59170
- ClinVar RCV000994119
- Uncertain significance
- Gaucher disease type I; Gaucher disease type II; Gaucher disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.36
- CADD 27.60
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Gaucher disease-ophthalmoplegia-cardiovascular ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-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)