R296Q (p.Arg296Gln) variant of GBA1 (P04062)
R296Q (p.Arg296Gln) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GBA1-related disorder; Gaucher disease type I; Gaucher disease type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R296Q (p.Arg296Gln) variant details
- p.Arg296Gln
- rs78973108
- ClinGen CA221417
- cosmic curated COSV59170
- ClinVar RCV000004573
- Pathogenic
- GBA1-related disorder; Gaucher disease type I; Gaucher disease type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.94
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (GBA1-related disorder; Gaucher disease type I; Gaucher disease t)
- EBI: Pathogenic (in GD1 and GD2)
- UniProt: Pathogenic (in GD1 and GD2)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. (PMID 10649495)
- Cited in: Type 2 Gaucher disease: the collodion baby phenotype revisited. (PMID 10685993)