L304F (p.Leu304Phe) variant of OTC (P00480)
L304F (p.Leu304Phe) 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 0.95 / 1. The record also includes published literature and structural context.
L304F (p.Leu304Phe) variant details
- p.Leu304Phe
- rs72558465
- ClinGen CA224834
- ClinVar RCV000011755
- ClinVar RCV000083607
- Pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Mutations and polymorphisms in the human ornithine transcarbamylase gene. (PMID 11793468)
- Cited in: Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism. (PMID 1480464)