R52H (p.Arg52His) variant of PAX8 (Paired box protein Pax-8)
R52H (p.Arg52His) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R52H (p.Arg52His) variant details
- p.Arg52His
- ESP rs370551984
- ExAC rs370551984
- gnomAD rs370551984
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.93
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available