S207R (p.Ser207Arg) variant of OTC (P00480)
S207R (p.Ser207Arg) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S207R (p.Ser207Arg) variant details
- p.Ser207Arg
- rs72558415
- ClinGen CA224715
- ClinVar RCV000083516
- ClinVar RCV003225028
- Likely pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.88
- MetaLR 0.95
- MetaSVM 1.04
- CADD 18.30
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Population evidence available
- 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)