P169L (p.Pro169Leu) variant of OTC (P00480)
P169L (p.Pro169Leu) 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 0.97 / 1. The record also includes published literature and structural context.
P169L (p.Pro169Leu) variant details
- p.Pro169Leu
- rs72556278
- ClinGen CA224655
- ClinVar RCV000083468
- ClinVar RCV000990789
- Pathogenic/Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- 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)