Q98H (p.Gln98His) variant of PAX8 (Paired box protein Pax-8)
Q98H (p.Gln98His) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Q98H (p.Gln98His) variant details
- p.Gln98His
- gnomAD rs1319069401
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.61
- CADD 24.10
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available