M206T (p.Met206Thr) variant of OTC (P00480)
M206T (p.Met206Thr) in OTC (P00480) is a missense change. Clinical records from ClinVar 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 0.81 / 1. The record also includes published literature and structural context.
M206T (p.Met206Thr) variant details
- p.Met206Thr
- rs72558412
- ClinGen CA412725680
- ClinVar RCV004014303
- Conflicting interpretations
- 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: Conflicting classifications of pathogenicity (Ornithine carbamoyltransferase deficiency)
- UniProt: Conflicting interpretations (in OTCD)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)