L2M (p.Leu2Met) variant of OTC (P00480)
L2M (p.Leu2Met) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L2M (p.Leu2Met) variant details
- p.Leu2Met
- gnomAD X-38352700-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.46
- MetaLR 0.88
- MetaSVM 0.92
- CADD 18.30
- PolyPhen-2 0.14
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available