E117K (p.Glu117Lys) variant of MMUT (P22033)
E117K (p.Glu117Lys) in MMUT (P22033) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
E117K (p.Glu117Lys) variant details
- p.Glu117Lys
- TOPMed rs121918253
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.86
- CADD 26.10
- PolyPhen-2 0.77
- SIFT 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available