L116P (p.Leu116Pro) variant of PYGM (P11217)
L116P (p.Leu116Pro) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L116P (p.Leu116Pro) variant details
- p.Leu116Pro
- rs776680924
- ClinGen CA6080276
- ClinVar RCV000666659
- UniProt VAR 014002
- Pathogenic/Likely pathogenic
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 29.00
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Glycogen storage disease, type V)
- EBI: Pathogenic (in GSD5)
- UniProt: Pathogenic (in GSD5)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact. (PMID 10417800)
- Cited in: Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. (PMID 11706962)