Y45C (p.Tyr45Cys) variant of GYS2 (P54840)
Y45C (p.Tyr45Cys) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Y45C (p.Tyr45Cys) variant details
- p.Tyr45Cys
- ExAC rs780740780
- gnomAD rs780740780
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available