P225L (p.Pro225Leu) variant of OTC (P00480)
P225L (p.Pro225Leu) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P225L (p.Pro225Leu) variant details
- p.Pro225Leu
- rs67120076
- ClinGen CA224741
- NCI-TCGA Cosmic COSV9923
- ClinVar RCV000011747
- Pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.93
- AlphaMissense 0.54
- MetaLR 0.97
- MetaSVM 1.11
- CADD 22.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Population evidence available
- Structural context available
- Cited in: Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene. (PMID 1721894)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)