F25S (p.Phe25Ser) variant of OTC (P00480)
F25S (p.Phe25Ser) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
F25S (p.Phe25Ser) variant details
- p.Phe25Ser
- gnomAD X-38352770-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.65
- MetaLR 0.84
- MetaSVM 0.52
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available