V22I (p.Val22Ile) variant of GLA (Alpha-galactosidase A)
V22I (p.Val22Ile) 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; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V22I (p.Val22Ile) variant details
- p.Val22Ile
- rs2520946121
- ClinGen CA413937646
- ClinVar RCV003511070
- ClinVar RCV005628386
- Uncertain significance
- Cardiovascular phenotype; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.21
- MetaLR 0.98
- MetaSVM 1.93
- CADD 4.37
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Cardiovascular phenotype; Fabry disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-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)