R5G (p.Arg5Gly) variant of GYS2 (P54840)
R5G (p.Arg5Gly) in GYS2 (P54840) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- ExAC rs775874593
- TOPMed rs775874593
- gnomAD rs775874593
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 17.40
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available