S65T (p.Ser65Thr) variant of GLA (Alpha-galactosidase A)
S65T (p.Ser65Thr) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
S65T (p.Ser65Thr) variant details
- p.Ser65Thr
- rs104894848
- ClinGen CA021577
- ClinVar RCV000011513
- UniProt VAR 032290
- Likely pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 0.20
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.54
- ClinVar: Likely pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease. (PMID 12786754)
- Cited in: Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease.… (PMID 9554750)