S164R (p.Ser164Arg) variant of GBA1 (P04062)
S164R (p.Ser164Arg) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S164R (p.Ser164Arg) variant details
- p.Ser164Arg
- rs746019841
- ClinGen CA1141731
- ClinVar RCV001823570
- ClinVar RCV002282581
- Likely pathogenic
- not provided; Gaucher disease; Gaucher disease type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.92
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Gaucher disease; Gaucher disease type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- 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)