W351S (p.Trp351Ser) variant of GBA1 (P04062)
W351S (p.Trp351Ser) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Parkinson disease, late-onset; Lewy body dementia; Gaucher disease perinatal let. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
W351S (p.Trp351Ser) variant details
- p.Trp351Ser
- rs1553217294
- ClinGen CA342717600
- ClinVar RCV000587644
- ClinVar RCV002497235
- Likely pathogenic
- Parkinson disease, late-onset; Lewy body dementia; Gaucher disease perinatal let
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.92
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Parkinson disease, late-onset; Lewy body dementia; Gaucher disea)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Functional analysis of 11 novel GBA alleles. (PMID 24022302)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)