T242N (p.Thr242Asn) variant of OTC (P00480)
T242N (p.Thr242Asn) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
T242N (p.Thr242Asn) variant details
- p.Thr242Asn
- rs72558435
- ClinGen CA234475
- ClinVar RCV000153627
- ClinVar RCV005632264
- Uncertain significance
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- AlphaMissense 0.72
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.39
- ClinVar: Uncertain significance (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)