L139S (p.Leu139Ser) variant of OTC (P00480)
L139S (p.Leu139Ser) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Likely inborn error of metabolism; not provided; Ornithine carbamoyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
L139S (p.Leu139Ser) variant details
- p.Leu139Ser
- rs72556259
- ClinGen CA224594
- ClinVar RCV000083430
- ClinVar RCV003509490
- Pathogenic/Likely pathogenic
- Likely inborn error of metabolism; not provided; Ornithine carbamoyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic/Likely pathogenic (Likely inborn error of metabolism; not provided; Ornithine carba)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency. (PMID 9266388)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)