F48L (p.Phe48Leu) variant of OTC (P00480)
F48L (p.Phe48Leu) in OTC (P00480) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
F48L (p.Phe48Leu) variant details
- p.Phe48Leu
- gnomAD X-38367354-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 26.20
- Population evidence available
- Structural context available
- Literature evidence available