K34E (p.Lys34Glu) variant of OTC (P00480)
K34E (p.Lys34Glu) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K34E (p.Lys34Glu) variant details
- p.Lys34Glu
- gnomAD X-38367313-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.32
- MetaLR 0.79
- MetaSVM 0.18
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.76
- Population evidence available
- Structural context available
- Literature evidence available