G132C (p.Gly132Cys) variant of GYS2 (P54840)
G132C (p.Gly132Cys) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G132C (p.Gly132Cys) variant details
- p.Gly132Cys
- TOPMed rs1944441887
- gnomAD rs1944441887
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.38
- CADD 25.90
- PolyPhen-2 0.96
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available