R40L (p.Arg40Leu) variant of OTC (P00480)
R40L (p.Arg40Leu) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- rs72554308
- ClinGen CA412715937
- ClinVar RCV003509053
- Likely pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- AlphaMissense 0.17
- MetaLR 0.95
- MetaSVM 1.14
- PolyPhen-2 0.54
- SIFT 0.02
- EVE 0.38
- ClinVar: Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Likely pathogenic (in OTCD)
- UniProt: Likely pathogenic (in OTCD)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)