A233V (p.Ala233Val) variant of OTC (P00480)
A233V (p.Ala233Val) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A233V (p.Ala233Val) variant details
- p.Ala233Val
- rs72558429
- ClinGen CA224744
- ClinVar RCV000083538
- ClinVar RCV004558300
- Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.86
- MetaLR 0.97
- MetaSVM 1.10
- CADD 24.70
- PolyPhen-2 0.87
- SIFT 0.08
- ClinVar: Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)