R31* (p.Arg31Ter) variant of MMUT (P22033)
R31* (p.Arg31Ter) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R31* (p.Arg31Ter) variant details
- p.Arg31Ter
- rs398123278
- ClinGen CA249743
- ClinVar RCV000078448
- ClinVar RCV000175566
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)