W30* (p.Trp30Ter) variant of MMACHC (Q9Y4U1)
W30* (p.Trp30Ter) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
W30* (p.Trp30Ter) variant details
- p.Trp30Ter
- rs771673343
- ClinGen CA827640
- ClinVar RCV000671638
- ExAC rs771673343
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)