Q132* (p.Gln132Ter) variant of MMUT (P22033)
Q132* (p.Gln132Ter) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q132* (p.Gln132Ter) variant details
- p.Gln132Ter
- rs1554160743
- ClinGen CA364404817
- ClinVar RCV001380755
- ClinVar RCV001829801
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.869
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)