S60L (p.Ser60Leu) variant of OTC (P00480)
S60L (p.Ser60Leu) 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 0.91 / 1. The record also includes published literature and structural context.
S60L (p.Ser60Leu) variant details
- p.Ser60Leu
- rs72554323
- ClinGen CA224492
- ClinVar RCV000083357
- UniProt VAR 004856
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.90
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations. (PMID 8544185)
- Cited in: Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. (PMID 10070622)