V35A (p.Val35Ala) variant of PAX8 (Paired box protein Pax-8)
V35A (p.Val35Ala) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
V35A (p.Val35Ala) variant details
- p.Val35Ala
- ExAC rs775121343
- gnomAD rs775121343
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.97
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available