L42I (p.Leu42Ile) variant of OTC (P00480)
L42I (p.Leu42Ile) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L42I (p.Leu42Ile) variant details
- p.Leu42Ile
- gnomAD X-38367337-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.59
- MetaLR 0.95
- MetaSVM 1.19
- CADD 21.40
- PolyPhen-2 0.37
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available