F3L (p.Phe3Leu) variant of OTC (P00480)
F3L (p.Phe3Leu) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
F3L (p.Phe3Leu) variant details
- p.Phe3Leu
- gnomAD X-38352703-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.32
- MetaLR 0.77
- MetaSVM 0.13
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available