K54E (p.Lys54Glu) variant of OTC (P00480)
K54E (p.Lys54Glu) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K54E (p.Lys54Glu) variant details
- p.Lys54Glu
- gnomAD X-38367373-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.35
- MetaLR 0.75
- MetaSVM 0.24
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available