M1I (p.Met1Ile) variant of PYGM (P11217)
M1I (p.Met1Ile) 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 0.72 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2496676087
- ClinGen CA381113489
- ClinVar RCV003498270
- Pathogenic
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- ESM-1b 1.00
- AlphaMissense 0.38
- ClinVar: Pathogenic (Glycogen storage disease, type V)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)