M205T (p.Met205Thr) variant of OTC (P00480)
M205T (p.Met205Thr) 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 0.95 / 1. The record also includes published literature and structural context.
M205T (p.Met205Thr) variant details
- p.Met205Thr
- rs2068501940
- ClinGen CA412725663
- ClinVar RCV001866601
- Ensembl rs2068501940
- Pathogenic/Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.84
- ClinVar: Pathogenic/Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)