D94N (p.Asp94Asn) variant of PAX8 (Paired box protein Pax-8)
D94N (p.Asp94Asn) 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 Hypothyroidism, congenital, nongoitrous, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
D94N (p.Asp94Asn) variant details
- p.Asp94Asn
- rs1573469745
- ClinGen CA348302540
- cosmic curated COSV54509
- ClinVar RCV001130015
- Uncertain significance
- Hypothyroidism, congenital, nongoitrous, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.59
- CADD 23.90
- PolyPhen-2 0.51
- SIFT 0.07
- ClinVar: Uncertain significance (Hypothyroidism, congenital, nongoitrous, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available