E117* (p.Glu117Ter) variant of MMUT (P22033)
E117* (p.Glu117Ter) in MMUT (P22033) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E117* (p.Glu117Ter) variant details
- p.Glu117Ter
- rs121918253
- ClinGen CA115264
- ClinVar RCV000001959
- ClinVar RCV000670836
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Cited in: Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in… (PMID 7951229)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)