M206R (p.Met206Arg) variant of OTC (P00480)
M206R (p.Met206Arg) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
M206R (p.Met206Arg) variant details
- p.Met206Arg
- rs72558412
- ClinGen CA224711
- ClinVar RCV000011759
- ClinVar RCV000083513
- Pathogenic/Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.85
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.40
- ClinVar: Pathogenic/Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency. (PMID 10405441)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)