W57* (p.Trp57Ter) variant of MMADHC (Q9H3L0)
W57* (p.Trp57Ter) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
W57* (p.Trp57Ter) variant details
- p.Trp57Ter
- rs1682767587
- ClinGen CA348870921
- ClinVar RCV003600522
- TOPMed rs1682767587
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)