Y45F (p.Tyr45Phe) variant of GYS2 (P54840)
Y45F (p.Tyr45Phe) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
Y45F (p.Tyr45Phe) variant details
- p.Tyr45Phe
- ExAC rs780740780
- gnomAD rs780740780
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available