M187V (p.Met187Val) variant of GLA (Alpha-galactosidase A)
M187V (p.Met187Val) 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 not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
M187V (p.Met187Val) variant details
- p.Met187Val
- rs869312340
- ClinGen CA352852
- ClinVar RCV001782186
- ClinVar RCV003152770
- Likely pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.77
- MetaLR 0.99
- MetaSVM 0.89
- CADD 24.70
- PolyPhen-2 0.56
- SIFT 0.03
- ClinVar: Likely pathogenic (not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Population evidence available
- Structural context available
- Cited in: Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in… (PMID 10916280)
- Cited in: Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. (PMID 26415523)