W54* (p.Trp54Ter) variant of MMAA (Q8IVH4)
W54* (p.Trp54Ter) in MMAA (Q8IVH4) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
W54* (p.Trp54Ter) variant details
- p.Trp54Ter
- rs864309725
- ClinGen CA347884
- ClinVar RCV000203357
- TOPMed rs864309725
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)