Y73Y (p.Tyr73Tyr) variant of OTC (P00480)
Y73Y (p.Tyr73Tyr) in OTC (P00480) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Y73Y (p.Tyr73Tyr) variant details
- p.Tyr73Tyr
- gnomAD X-38369798-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 13.60
- Population evidence available
- Structural context available
- Literature evidence available