C81G (p.Cys81Gly) variant of GYS2 (P54840)
C81G (p.Cys81Gly) in GYS2 (P54840) 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 0.44 / 1. The record also includes population frequency data and structural context.
C81G (p.Cys81Gly) variant details
- p.Cys81Gly
- 1000Genomes rs146200724
- ExAC rs146200724
- TOPMed rs146200724
- gnomAD rs146200724
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available