T49P (p.Thr49Pro) variant of OTC (P00480)
T49P (p.Thr49Pro) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
T49P (p.Thr49Pro) variant details
- p.Thr49Pro
- rs72554316
- ClinGen CA224469
- ClinVar RCV000083344
- ClinVar RCV003485536
- Uncertain significance
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 0.25
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.92
- SIFT 0.00
- EVE 0.24
- ClinVar: Uncertain significance (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)