R110W (p.Arg110Trp) variant of PAX8 (Paired box protein Pax-8)
R110W (p.Arg110Trp) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R110W (p.Arg110Trp) variant details
- p.Arg110Trp
- Ensembl rs1691146618
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.86
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available