Y122C (p.Tyr122Cys) variant of GYS2 (P54840)
Y122C (p.Tyr122Cys) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Y122C (p.Tyr122Cys) variant details
- p.Tyr122Cys
- TOPMed rs1944442366
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 20.80
- PolyPhen-2 0.54
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available