G136D (p.Gly136Asp) variant of PYGM (P11217)
G136D (p.Gly136Asp) 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 0.92 / 1. The record also includes population frequency data and structural context.
G136D (p.Gly136Asp) variant details
- p.Gly136Asp
- ExAC rs756547364
- TOPMed rs756547364
- gnomAD rs756547364
- Likely pathogenic
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available