M206K (p.Met206Lys) variant of OTC (P00480)
M206K (p.Met206Lys) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ornithine carbamoyltransferase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
M206K (p.Met206Lys) variant details
- p.Met206Lys
- rs72558412
- ClinGen CA412725677
- ClinVar RCV001244170
- ClinVar RCV001566704
- Likely pathogenic
- Ornithine carbamoyltransferase deficiency; not provided
- 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: Likely pathogenic (Ornithine carbamoyltransferase deficiency; not provided)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)