R67C (p.Arg67Cys) variant of PYGM (P11217)
R67C (p.Arg67Cys) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; 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.
R67C (p.Arg67Cys) variant details
- p.Arg67Cys
- TOPMed rs957181304
- gnomAD rs957181304
- Uncertain significance
- Inborn genetic diseases; Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.67
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available