Q180H (p.Gln180His) variant of OTC (P00480)
Q180H (p.Gln180His) 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 0.76 / 1. The record also includes published literature and structural context.
Q180H (p.Gln180His) variant details
- p.Gln180His
- rs72556287
- ClinGen CA224674
- ClinVar RCV000083483
- ClinVar RCV001385352
- Pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- AlphaMissense 0.73
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.45
- EVE 0.26
- ClinVar: Pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency. (PMID 9452024)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)