R502H (p.Arg502His) variant of GBA1 (P04062)
R502H (p.Arg502His) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R502H (p.Arg502His) variant details
- p.Arg502His
- rs80356772
- ClinGen CA341578
- ClinVar RCV000020152
- ClinVar RCV000409564
- Pathogenic/Likely pathogenic
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher d
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.84
- MetaLR 0.96
- MetaSVM 1.07
- CADD 34.00
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Gaucher disease-ophthalmoplegia-cardiovascular calcification syn)
- EBI: Pathogenic (in GD)
- UniProt: Pathogenic (in GD)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)