R170L (p.Arg170Leu) variant of GBA1 (P04062)
R170L (p.Arg170Leu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R170L (p.Arg170Leu) variant details
- p.Arg170Leu
- rs80356763
- ClinGen CA253112
- ClinVar RCV000004574
- ClinVar RCV000020155
- Pathogenic/Likely pathogenic
- not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.88
- CADD 25.20
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Gaucher disease)
- EBI: Pathogenic (in GD1 and GD2)
- UniProt: Pathogenic (in GD1 and GD2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. (PMID 10649495)
- Cited in: Type 2 Gaucher disease: the collodion baby phenotype revisited. (PMID 10685993)