W24R (p.Trp24Arg) variant of GLA (Alpha-galactosidase A)
W24R (p.Trp24Arg) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
W24R (p.Trp24Arg) variant details
- p.Trp24Arg
- rs397515871
- ClinGen CA021990
- ClinVar RCV000035308
- ClinVar RCV000769544
- Uncertain significance
- Cardiovascular phenotype; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.40
- MetaLR 0.99
- MetaSVM 2.08
- CADD 13.00
- PolyPhen-2 0.06
- SIFT 0.26
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.5e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)