M1L (p.Met1Leu) variant of PYGM (P11217)
M1L (p.Met1Leu) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs267606993
- ClinGen CA381113509
- ClinVar RCV000668678
- ClinGen CA270754
- Pathogenic/Likely pathogenic
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.86
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Glycogen storage disease, type V)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency… (PMID 7951262)
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)