E36K (p.Glu36Lys) variant of GYS2 (P54840)
E36K (p.Glu36Lys) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- Ensembl rs1591816790
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 27.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available