T178M (p.Thr178Met) variant of OTC (P00480)
T178M (p.Thr178Met) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
T178M (p.Thr178Met) variant details
- p.Thr178Met
- rs72556284
- ClinGen CA224668
- NCI-TCGA Cosmic COSV5000
- ClinVar RCV000083477
- Pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.82
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Ornithine transcarbamylase deficiency: new sites with increased probability of mutation. (PMID 7860066)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)