R170H (p.Arg170His) variant of GBA1 (P04062)
R170H (p.Arg170His) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Gaucher disease-ophthalmoplegia-cardiovascular calcification synd. 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.
R170H (p.Arg170His) variant details
- p.Arg170His
- rs80356763
- ClinGen CA1141729
- ClinVar RCV001004134
- ClinVar RCV002282424
- Conflicting interpretations
- not specified; Gaucher disease-ophthalmoplegia-cardiovascular calcification synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.85
- CADD 21.80
- PolyPhen-2 0.07
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (not specified; Gaucher disease-ophthalmoplegia-cardiovascular ca)
- EBI: Pathogenic (in GD1 and GD2)
- UniProt: Pathogenic (in GD1 and GD2)
- Most common in the Non-Finnish European population (allele frequency 5e-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)