L43F (p.Leu43Phe) variant of OTC (P00480)
L43F (p.Leu43Phe) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
L43F (p.Leu43Phe) variant details
- p.Leu43Phe
- rs72554309
- ClinGen CA224457
- ClinVar RCV000083335
- UniProt VAR 004847
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- AlphaMissense 0.18
- MetaLR 0.93
- MetaSVM 0.98
- PolyPhen-2 0.96
- SIFT 0.14
- EVE 0.19
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in dbSNP:rs72554309)
- UniProt: Pathogenic (in dbSNP:rs72554309)
- Structural context available
- Cited in: Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous… (PMID 9143919)