R54* (p.Arg54Ter) variant of MMADHC (Q9H3L0)
R54* (p.Arg54Ter) in MMADHC (Q9H3L0) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R54* (p.Arg54Ter) variant details
- p.Arg54Ter
- rs118204047
- ClinGen CA114489
- NCI-TCGA Cosmic COSV5757
- cosmic curated COSV57574
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Gene identification for the cblD defect of vitamin B12 metabolism. (PMID 18385497)
- Cited in: Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells. (PMID 2339678)