R3G (p.Arg3Gly) variant of PYGM (P11217)
R3G (p.Arg3Gly) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- 1000Genomes rs199565370
- ESP rs199565370
- ExAC rs199565370
- TOPMed rs199565370
- Uncertain significance
- not provided; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 22.90
- PolyPhen-2 0.08
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available