F20S (p.Phe20Ser) variant of OTC (P00480)
F20S (p.Phe20Ser) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
F20S (p.Phe20Ser) variant details
- p.Phe20Ser
- gnomAD X-38352755-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.23
- MetaLR 0.82
- MetaSVM 0.37
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available