Y66F (p.Tyr66Phe) variant of PAX8 (Paired box protein Pax-8)
Y66F (p.Tyr66Phe) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Y66F (p.Tyr66Phe) variant details
- p.Tyr66Phe
- gnomAD 2-113227109-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 3.43
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available