Q68* (p.Gln68Ter) variant of MMAA (Q8IVH4)
Q68* (p.Gln68Ter) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Q68* (p.Gln68Ter) variant details
- p.Gln68Ter
- rs754894257
- ClinGen CA107720165
- ClinVar RCV000509034
- Ensembl rs754894257
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)