R70G (p.Arg70Gly) variant of PYGM (P11217)
R70G (p.Arg70Gly) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
R70G (p.Arg70Gly) variant details
- p.Arg70Gly
- ExAC rs765844107
- TOPMed rs765844107
- gnomAD rs765844107
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 29.40
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available