S201A (p.Ser201Ala) variant of GLA (Alpha-galactosidase A)
S201A (p.Ser201Ala) 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 Cardiomyopathy; Fabry disease; Cardiovascular phenotype. 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.
S201A (p.Ser201Ala) variant details
- p.Ser201Ala
- rs782164447
- ClinGen CA031514
- ClinVar RCV001190980
- ClinVar RCV003486963
- Uncertain significance
- Cardiomyopathy; Fabry disease; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.94
- AlphaMissense 0.93
- MetaLR 1.00
- MetaSVM 0.86
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiomyopathy; Fabry disease; Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in FABRYD)
- UniProt: Uncertain significance (in FABRYD)
- Most common in the East Asian population (allele frequency 0.00013)
- 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)