M206I (p.Met206Ile) variant of OTC (P00480)
M206I (p.Met206Ile) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
M206I (p.Met206Ile) variant details
- p.Met206Ile
- rs72558413
- ClinGen CA224712
- ClinVar RCV000083514
- TOPMed rs72558413
- Conflicting interpretations
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.59
- MetaLR 0.86
- MetaSVM 0.70
- CADD 19.00
- PolyPhen-2 0.10
- SIFT 0.39
- ClinVar: Conflicting classifications of pathogenicity (Ornithine carbamoyltransferase deficiency; not specified)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino… (PMID 11793483)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)