K221N (p.Lys221Asn) variant of OTC (P00480)
K221N (p.Lys221Asn) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
K221N (p.Lys221Asn) variant details
- p.Lys221Asn
- rs281865552
- ClinGen CA224735
- ClinVar RCV000083531
- Ensembl rs281865552
- Pathogenic/Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- AlphaMissense 0.32
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.02
- EVE 0.34
- ClinVar: Pathogenic/Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)