Q37* (p.Gln37Ter) variant of MMUT (P22033)
Q37* (p.Gln37Ter) 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 0.61 / 1. The record also includes population frequency data and structural context.
Q37* (p.Gln37Ter) variant details
- p.Gln37Ter
- rs1487859107
- ClinGen CA364405725
- ClinVar RCV001091105
- TOPMed rs1487859107
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available