P86R (p.Pro86Arg) variant of PAX8 (Paired box protein Pax-8)
P86R (p.Pro86Arg) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P86R (p.Pro86Arg) variant details
- p.Pro86Arg
- rs746024925
- ClinGen CA1840296
- ClinVar RCV000501288
- ExAC rs746024925
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.81
- CADD 27.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available