G111R (p.Gly111Arg) variant of GYS2 (P54840)
G111R (p.Gly111Arg) in GYS2 (P54840) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
G111R (p.Gly111Arg) variant details
- p.Gly111Arg
- rs1284586998
- NCI-TCGA Cosmic COSV5392
- TOPMed rs1284586998
- gnomAD rs1284586998
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 27.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available