T343I (p.Thr343Ile) variant of OTC (P00480)
T343I (p.Thr343Ile) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ornithine carbamoyltransferase deficiency; not specified; Likely inborn error of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
T343I (p.Thr343Ile) variant details
- p.Thr343Ile
- rs72558491
- ClinVar RCV004586053
- ClinVar RCV005040704
- Conflicting interpretations
- Ornithine carbamoyltransferase deficiency; not specified; Likely inborn error of
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.78
- AlphaMissense 0.25
- MetaLR 0.86
- MetaSVM 0.76
- CADD 26.30
- PolyPhen-2 0.10
- ClinVar: Conflicting classifications of pathogenicity (Ornithine carbamoyltransferase deficiency; not specified; Likely)
- EBI: Variant of uncertain significance (in OTCD)
- UniProt: Uncertain significance (in OTCD)
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)