I120M (p.Ile120Met) variant of GYS2 (P54840)
I120M (p.Ile120Met) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
I120M (p.Ile120Met) variant details
- p.Ile120Met
- ESP rs371292004
- TOPMed rs371292004
- gnomAD rs371292004
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- ESM-1b 0.80
- AlphaMissense 0.17
- MetaLR 0.16
- MetaSVM -0.96
- SIFT 0.36
- Structural context available