Q90* (p.Gln90Ter) variant of MMADHC (Q9H3L0)
Q90* (p.Gln90Ter) in MMADHC (Q9H3L0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q90* (p.Gln90Ter) variant details
- p.Gln90Ter
- rs1185711564
- ClinVar RCV004576197
- gnomAD rs1185711564
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 38.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)