R7K (p.Arg7Lys) variant of PAX8 (Paired box protein Pax-8)
R7K (p.Arg7Lys) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R7K (p.Arg7Lys) variant details
- p.Arg7Lys
- TOPMed rs979804694
- gnomAD rs979804694
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.43
- CADD 23.60
- PolyPhen-2 0.54
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available