R342Q (p.Arg342Gln) variant of GLA (Alpha-galactosidase A)
R342Q (p.Arg342Gln) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; not provided; Primary familial hypertrophic cardiomyop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R342Q (p.Arg342Gln) variant details
- p.Arg342Gln
- rs28935493
- ClinGen CA021326
- ClinVar RCV000011490
- ClinVar RCV000723455
- Pathogenic
- Cardiovascular phenotype; not provided; Primary familial hypertrophic cardiomyop
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.90
- AlphaMissense 0.43
- MetaLR 0.98
- MetaSVM 1.05
- CADD 25.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Primary familial hypertr)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Co-occurrence and contribution of Fabry disease and Klippel-Trénaunay-Weber syndrome to a patient with atypical skin… (PMID 11531972)
- Cited in: Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional… (PMID 7531540)