M100R (p.Met100Arg) variant of PYGM (P11217)
M100R (p.Met100Arg) 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 0.84 / 1. The record also includes population frequency data and structural context.
M100R (p.Met100Arg) variant details
- p.Met100Arg
- ExAC rs528545908
- TOPMed rs528545908
- gnomAD rs528545908
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 28.00
- PolyPhen-2 0.79
- SIFT 0.00
- 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 0.0015)
- Structural context available