L8P (p.Leu8Pro) variant of OTC (P00480)
L8P (p.Leu8Pro) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- gnomAD X-38352719-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.65
- MetaLR 0.91
- MetaSVM 1.02
- CADD 24.90
- PolyPhen-2 0.64
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available