M268I (p.Met268Ile) variant of OTC (P00480)
M268I (p.Met268Ile) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Ornithine carbamoyltransferase deficiency. 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.
M268I (p.Met268Ile) variant details
- p.Met268Ile
- rs1357402422
- ClinGen CA412723134
- ClinVar RCV003831035
- ClinVar RCV004767488
- Conflicting interpretations
- Inborn genetic diseases; not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.94
- MetaLR 0.97
- MetaSVM 1.10
- CADD 25.10
- PolyPhen-2 0.49
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Ornithine carbamoyltransf)
- EBI: Likely pathogenic (in OTCD)
- UniProt: Likely pathogenic (in OTCD)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)