H10R (p.His10Arg) variant of PAX8 (Paired box protein Pax-8)
H10R (p.His10Arg) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
H10R (p.His10Arg) variant details
- p.His10Arg
- TOPMed rs1387635818
- gnomAD rs1387635818
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.89
- CADD 25.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available