Q18* (p.Gln18Ter) variant of MMUT (P22033)
Q18* (p.Gln18Ter) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- rs121918248
- ClinGen CA249725
- ClinVar RCV000001954
- ClinVar RCV000203362
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines. (PMID 2453061)
- Cited in: Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a… (PMID 2881300)