S81P (p.Ser81Pro) variant of OTC (P00480)
S81P (p.Ser81Pro) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
S81P (p.Ser81Pro) variant details
- p.Ser81Pro
- rs2147324956
- ClinGen CA412716867
- ClinVar RCV002028760
- ClinVar RCV004774604
- Pathogenic/Likely pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.94
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)