G241R (p.Gly241Arg) variant of GBA1 (P04062)
G241R (p.Gly241Arg) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G241R (p.Gly241Arg) variant details
- p.Gly241Arg
- rs409652
- ClinGen CA221411
- cosmic curated COSV59168
- ClinVar RCV000589250
- Pathogenic
- Gaucher disease type I; Gaucher disease type II; Gaucher disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.80
- CADD 21.00
- PolyPhen-2 0.42
- SIFT 0.04
- ClinVar: Pathogenic (Gaucher disease type I; Gaucher disease type II; Gaucher disease)
- EBI: Pathogenic (in GD1, GD2 and GD3)
- UniProt: Pathogenic (in GD1, GD2 and GD3)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients. (PMID 10360404)
- Cited in: Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. (PMID 10796875)