R6K (p.Arg6Lys) variant of OTC (P00480)
R6K (p.Arg6Lys) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R6K (p.Arg6Lys) variant details
- p.Arg6Lys
- rs2519941871
- ClinVar RCV004577183
- Uncertain significance
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.37
- MetaLR 0.84
- MetaSVM 0.68
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Ornithine carbamoyltransferase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)