G234E (p.Gly234Glu) variant of GBA1 (P04062)
G234E (p.Gly234Glu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Gaucher disease. 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.
G234E (p.Gly234Glu) variant details
- p.Gly234Glu
- rs74462743
- ClinGen CA30895513
- ClinVar RCV000675276
- UniProt VAR 003277
- Pathogenic
- not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.89
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Gaucher disease)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher… (PMID 9153297)
- Cited in: A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online. (PMID 10206680)