R40C (p.Arg40Cys) variant of OTC (P00480)
R40C (p.Arg40Cys) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 population frequency data, published literature, and structural context.
R40C (p.Arg40Cys) variant details
- p.Arg40Cys
- rs72554307
- ClinGen CA090910
- ClinVar RCV000011760
- ClinVar RCV000083332
- Pathogenic/Likely pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.90
- MetaLR 0.98
- MetaSVM 1.03
- CADD 25.60
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Most common in the REMAINING population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon. (PMID 11260212)
- Cited in: Improved molecular diagnostics for ornithine transcarbamylase deficiency. (PMID 1671317)