L74M (p.Leu74Met) variant of OTC (P00480)
L74M (p.Leu74Met) 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.
L74M (p.Leu74Met) variant details
- p.Leu74Met
- gnomAD X-38369799-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.38
- MetaLR 0.95
- MetaSVM 1.09
- CADD 23.30
- PolyPhen-2 0.85
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available