P60T (p.Pro60Thr) variant of GLA (Alpha-galactosidase A)
P60T (p.Pro60Thr) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in FABRYD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
P60T (p.Pro60Thr) variant details
- p.Pro60Thr
- rs727504689
- ClinGen CA021565
- ClinVar RCV000155963
- ClinVar RCV003998296
- Likely pathogenic
- in FABRYD
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.11
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.40
- EBI: Likely pathogenic (in FABRYD)
- UniProt: Likely pathogenic (in FABRYD)
- 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)