T54K (p.Thr54Lys) variant of GYS2 (P54840)
T54K (p.Thr54Lys) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
T54K (p.Thr54Lys) variant details
- p.Thr54Lys
- TOPMed rs1944496636
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- ESM-1b 0.44
- AlphaMissense 0.51
- MetaLR 0.16
- MetaSVM -0.96
- SIFT 0.07
- Structural context available