W417G (p.Trp417Gly) variant of GBA1 (P04062)
W417G (p.Trp417Gly) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Gaucher disease; Gaucher disease type II. 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.
W417G (p.Trp417Gly) variant details
- p.Trp417Gly
- rs1450426641
- ClinGen CA342713973
- ClinVar RCV001583104
- ClinVar RCV001827516
- Pathogenic/Likely pathogenic
- not provided; Gaucher disease; Gaucher disease type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.95
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Gaucher disease; Gaucher disease type II)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Glucocerebrosidase mutations in Gaucher disease. (PMID 8790604)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)