Y352H (p.Tyr352His) variant of GBA1 (P04062)
Y352H (p.Tyr352His) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Y352H (p.Tyr352His) variant details
- p.Tyr352His
- rs2148073370
- ClinGen CA342717552
- ClinVar RCV003331578
- UniProt VAR 003291
- Pathogenic
- Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.95
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Gaucher disease)
- EBI: Pathogenic (in GD)
- UniProt: Pathogenic (in GD)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in… (PMID 8829663)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)