E148K (p.Glu148Lys) variant of GYS2 (P54840)
E148K (p.Glu148Lys) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
E148K (p.Glu148Lys) variant details
- p.Glu148Lys
- Ensembl rs1591800629
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- ESM-1b 1.00
- AlphaMissense 0.95
- Structural context available