Y65F (p.Tyr65Phe) variant of PAX8 (Paired box protein Pax-8)
Y65F (p.Tyr65Phe) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Y65F (p.Tyr65Phe) variant details
- p.Tyr65Phe
- 1000Genomes rs200673821
- ESP rs200673821
- ExAC rs200673821
- TOPMed rs200673821
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.82
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available