M42V (p.Met42Val) variant of GLA (Alpha-galactosidase A)
M42V (p.Met42Val) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
M42V (p.Met42Val) variant details
- p.Met42Val
- rs797044613
- ClinGen CA352279
- ClinVar RCV000727558
- ClinVar RCV001063224
- Pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 0.27
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. (PMID 10666480)
- Cited in: Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other… (PMID 8875188)