C55S (p.Cys55Ser) variant of GBA1 (P04062)
C55S (p.Cys55Ser) in GBA1 (P04062) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C55S (p.Cys55Ser) variant details
- p.Cys55Ser
- rs773007510
- cosmic curated COSV10051
- UniProt VAR 032394
- ExAC rs773007510
- Pathogenic
- in GD
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.90
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.03
- EBI: Pathogenic (in GD)
- UniProt: Pathogenic (in GD)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and… (PMID 11992489)
- Cited in: Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic… (PMID 15292921)