S340F (p.Ser340Phe) variant of OTC (P00480)
S340F (p.Ser340Phe) 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 0.72 / 1. The record also includes published literature and structural context.
S340F (p.Ser340Phe) variant details
- p.Ser340Phe
- rs1569282905
- ClinGen CA412728035
- ClinVar RCV000756453
- ClinVar RCV001376924
- Pathogenic/Likely pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- AlphaMissense 0.55
- MetaLR 0.94
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.20
- ClinVar: Pathogenic/Likely pathogenic (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)