Q42* (p.Gln42Ter) variant of MMAA (Q8IVH4)
Q42* (p.Gln42Ter) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Q42* (p.Gln42Ter) variant details
- p.Gln42Ter
- rs758345818
- ClinGen CA358351519
- ClinVar RCV000669805
- ExAC rs758345818
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.818
- CADD 25.70
- 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)