L74S (p.Leu74Ser) variant of OTC (P00480)
L74S (p.Leu74Ser) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L74S (p.Leu74Ser) variant details
- p.Leu74Ser
- gnomAD X-38369800-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.52
- MetaLR 0.93
- MetaSVM 0.95
- CADD 23.40
- PolyPhen-2 0.84
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available