H350R (p.His350Arg) variant of GBA1 (P04062)
H350R (p.His350Arg) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
H350R (p.His350Arg) variant details
- p.His350Arg
- rs78198234
- ClinGen CA253105
- ClinVar RCV000004569
- ClinVar RCV001781180
- Pathogenic/Likely pathogenic
- not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.95
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Gaucher disease)
- EBI: Pathogenic (in GDPL, GD1 and GD2)
- UniProt: Pathogenic (in GDPL, GD1 and GD2)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? (PMID 10352942)
- Cited in: Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the… (PMID 27825739)