R61G (p.Arg61Gly) variant of PYGM (P11217)
R61G (p.Arg61Gly) in PYGM (P11217) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R61G (p.Arg61Gly) variant details
- p.Arg61Gly
- TOPMed rs1413461008
- gnomAD rs1413461008
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 28.00
- PolyPhen-2 0.93
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available