R73* (p.Arg73Ter) variant of MMACHC (Q9Y4U1)
R73* (p.Arg73Ter) in MMACHC (Q9Y4U1) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R73* (p.Arg73Ter) variant details
- p.Arg73Ter
- rs796051995
- ClinGen CA312728
- ClinVar RCV000186024
- ClinVar RCV000671572
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)