Q180P (p.Gln180Pro) variant of OTC (P00480)
Q180P (p.Gln180Pro) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
Q180P (p.Gln180Pro) variant details
- p.Gln180Pro
- rs2147341500
- ClinGen CA412724198
- ClinVar RCV002045240
- Ensembl rs2147341500
- Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.80
- ClinVar: Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Likely pathogenic (in OTCD)
- UniProt: Likely pathogenic (in OTCD)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)