D41E (p.Asp41Glu) variant of OTC (P00480)
D41E (p.Asp41Glu) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D41E (p.Asp41Glu) variant details
- p.Asp41Glu
- gnomAD X-38367336-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.58
- MetaLR 0.94
- MetaSVM 0.99
- CADD 13.40
- PolyPhen-2 0.03
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available