D51G (p.Asp51Gly) variant of PYGM (P11217)
D51G (p.Asp51Gly) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D51G (p.Asp51Gly) variant details
- p.Asp51Gly
- rs397514631
- ClinGen CA261238
- ClinVar RCV000033140
- TOPMed rs397514631
- Likely pathogenic
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 29.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Glycogen storage disease, type V)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant… (PMID 21880526)
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)