S395F (p.Ser395Phe) variant of GBA1 (P04062)
S395F (p.Ser395Phe) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not specified; not provided; Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S395F (p.Ser395Phe) variant details
- p.Ser395Phe
- rs760307559
- ClinGen CA1141604
- ClinVar RCV001175547
- ClinVar RCV001784667
- Pathogenic
- not specified; not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.92
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (not specified; not provided; Gaucher disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)