C12F (p.Cys12Phe) variant of GLA (Alpha-galactosidase A)
C12F (p.Cys12Phe) 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 Cardiovascular phenotype; not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
C12F (p.Cys12Phe) variant details
- p.Cys12Phe
- rs2520947238
- ClinGen CA413937798
- ClinVar RCV003313425
- ClinVar RCV004333263
- Uncertain significance
- Cardiovascular phenotype; not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.33
- MetaLR 0.98
- MetaSVM 2.43
- CADD 5.48
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Fabry disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.3e-05)
- 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)