Y63C (p.Tyr63Cys) variant of GYS2 (P54840)
Y63C (p.Tyr63Cys) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Y63C (p.Tyr63Cys) variant details
- p.Tyr63Cys
- TOPMed rs1450570025
- gnomAD rs1450570025
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available