L5M (p.Leu5Met) variant of OTC (P00480)
L5M (p.Leu5Met) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L5M (p.Leu5Met) variant details
- p.Leu5Met
- gnomAD X-38352709-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.36
- MetaLR 0.85
- MetaSVM 0.59
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available