R112H (p.Arg112His) variant of GLA (Alpha-galactosidase A)
R112H (p.Arg112His) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R112H (p.Arg112His) variant details
- p.Arg112His
- rs372966991
- ClinGen CA021645
- ClinVar RCV000175540
- ClinVar RCV000723466
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.97
- AlphaMissense 0.27
- MetaLR 0.99
- MetaSVM 0.97
- CADD 26.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Most common in the REMAINING population (allele frequency 4.3e-05)
- Structural context available
- Cited in: Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in… (PMID 10916280)
- Cited in: Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. (PMID 15712228)