S203F (p.Ser203Phe) variant of OTC (P00480)
S203F (p.Ser203Phe) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
S203F (p.Ser203Phe) variant details
- p.Ser203Phe
- rs72558410
- ClinGen CA412725627
- ClinVar RCV000590045
- ClinVar RCV001089878
- Conflicting interpretations
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Conflicting classifications of pathogenicity (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)