K70* (p.Lys70Ter) variant of OTC (P00480)
K70* (p.Lys70Ter) in OTC (P00480) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
K70* (p.Lys70Ter) variant details
- p.Lys70Ter
- rs2068302365
- ClinGen CA412716472
- ClinVar RCV002307237
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.547
- AlphaMissense 0.11
- MetaLR 0.82
- MetaSVM 0.58
- PolyPhen-2 0.00
- SIFT 0.47
- EVE 0.11
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)