L31P (p.Leu31Pro) variant of OTC (P00480)
L31P (p.Leu31Pro) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- rs2519950526
- ClinGen CA412715758
- ClinVar RCV003831773
- Uncertain significance
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.50
- MetaLR 0.84
- MetaSVM 0.43
- CADD 19.20
- PolyPhen-2 0.02
- SIFT 0.34
- ClinVar: Uncertain significance (Ornithine carbamoyltransferase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)