K46E (p.Lys46Glu) variant of OTC (P00480)
K46E (p.Lys46Glu) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
K46E (p.Lys46Glu) variant details
- p.Lys46Glu
- gnomAD X-38367349-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.50
- MetaLR 0.84
- MetaSVM 0.60
- CADD 20.00
- PolyPhen-2 0.09
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available