P60L (p.Pro60Leu) variant of GLA (Alpha-galactosidase A)
P60L (p.Pro60Leu) 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 not provided; Cardiovascular phenotype; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P60L (p.Pro60Leu) variant details
- p.Pro60Leu
- rs869312262
- ClinGen CA352942
- ClinVar RCV000731360
- ClinVar RCV003509514
- Uncertain significance
- not provided; Cardiovascular phenotype; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.85
- MetaLR 0.98
- MetaSVM 1.08
- CADD 28.80
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Fabry disease)
- EBI: Variant of uncertain significance (in FABRYD)
- UniProt: Uncertain significance (in FABRYD)
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. (PMID 26415523)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)