T44I (p.Thr44Ile) variant of OTC (P00480)
T44I (p.Thr44Ile) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
T44I (p.Thr44Ile) variant details
- p.Thr44Ile
- rs72554310
- ClinGen CA224459
- ClinVar RCV000083336
- ClinVar RCV001813756
- Pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.78
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families. (PMID 8830175)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)