T41S (p.Thr41Ser) variant of GLA (Alpha-galactosidase A)
T41S (p.Thr41Ser) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
T41S (p.Thr41Ser) variant details
- p.Thr41Ser
- rs782362194
- ClinGen CA029760
- ClinVar RCV001181362
- ClinVar RCV002363037
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.74
- MetaLR 0.99
- MetaSVM 1.03
- CADD 23.90
- PolyPhen-2 0.69
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Fabry disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)
- Cited in: Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. (PMID 16980809)