K70E (p.Lys70Glu) variant of OTC (P00480)
K70E (p.Lys70Glu) 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 0.49 / 1. The record also includes population frequency data and structural context.
K70E (p.Lys70Glu) variant details
- p.Lys70Glu
- gnomAD rs2068302365
- Uncertain significance
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.53
- AlphaMissense 0.11
- MetaLR 0.82
- MetaSVM 0.58
- CADD 20.70
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Ornithine carbamoyltransferase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available