L57I (p.Leu57Ile) variant of OTC (P00480)
L57I (p.Leu57Ile) 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.
L57I (p.Leu57Ile) variant details
- p.Leu57Ile
- gnomAD X-38367382-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.61
- MetaLR 0.95
- MetaSVM 0.98
- CADD 19.10
- PolyPhen-2 1.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available