H39Y (p.His39Tyr) variant of PAX8 (Paired box protein Pax-8)
H39Y (p.His39Tyr) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
H39Y (p.His39Tyr) variant details
- p.His39Tyr
- ExAC rs771771303
- gnomAD rs771771303
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.89
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available