Q35* (p.Gln35Ter) variant of MMUT (P22033)
Q35* (p.Gln35Ter) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q35* (p.Gln35Ter) variant details
- p.Gln35Ter
- rs1356455272
- ClinGen CA364405751
- ClinVar RCV003555285
- ClinVar RCV005622244
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)