Y31* (p.Tyr31Ter) variant of MMACHC (Q9Y4U1)
Y31* (p.Tyr31Ter) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Y31* (p.Tyr31Ter) variant details
- p.Tyr31Ter
- rs1295015390
- ClinGen CA340131374
- ClinVar RCV003496556
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)