I120K (p.Ile120Lys) variant of GYS2 (P54840)
I120K (p.Ile120Lys) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
I120K (p.Ile120Lys) variant details
- p.Ile120Lys
- TOPMed rs1227967058
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- ESM-1b 1.00
- AlphaMissense 0.89
- Structural context available