G39C (p.Gly39Cys) variant of OTC (P00480)
G39C (p.Gly39Cys) 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 0.81 / 1. The record also includes published literature and structural context.
G39C (p.Gly39Cys) variant details
- p.Gly39Cys
- rs72554306
- ClinGen CA224453
- ClinVar RCV000083331
- UniProt VAR 004844
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.60
- MetaLR 0.94
- MetaSVM 1.15
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.56
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia. (PMID 9452049)
- Cited in: Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. (PMID 10070622)