Y114H (p.Tyr114His) variant of GYS2 (P54840)
Y114H (p.Tyr114His) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Y114H (p.Tyr114His) variant details
- p.Tyr114His
- ExAC rs757754937
- TOPMed rs757754937
- gnomAD rs757754937
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 24.40
- PolyPhen-2 0.91
- SIFT 0.22
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available