D46N (p.Asp46Asn) variant of PAX8 (Paired box protein Pax-8)
D46N (p.Asp46Asn) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- rs781575903
- ClinGen CA1840338
- ClinVar RCV002293021
- ExAC rs781575903
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.91
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available