M1V (p.Met1Val) variant of PYGM (P11217)
M1V (p.Met1Val) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs267606993
- ClinGen CA252209
- ClinVar RCV000002399
- ClinVar RCV001579810
- Pathogenic
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.86
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (Glycogen storage disease, type V)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Mutation analysis in myophosphorylase deficiency (McArdle's disease). (PMID 9506549)
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)