S403T (p.Ser403Thr) variant of GBA1 (P04062)
S403T (p.Ser403Thr) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Gaucher disease; Gaucher disease type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S403T (p.Ser403Thr) variant details
- p.Ser403Thr
- rs121908307
- ClinGen CA253096
- ClinVar RCV000004564
- ClinVar RCV002281038
- Likely pathogenic
- not provided; Gaucher disease; Gaucher disease type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.66
- CADD 22.80
- PolyPhen-2 0.13
- SIFT 0.10
- ClinVar: Likely pathogenic (not provided; Gaucher disease; Gaucher disease type I)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. (PMID 1899336)
- Cited in: Complex alleles of the acid beta-glucosidase gene in Gaucher disease. (PMID 2349952)