R133Q (p.Arg133Gln) variant of PAX8 (Paired box protein Pax-8)
R133Q (p.Arg133Gln) 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 Congenital hypothyroidism; Hypothyroidism, congenital, nongoitrous, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
R133Q (p.Arg133Gln) variant details
- p.Arg133Gln
- NCI-TCGA Cosmic COSV5450
- cosmic curated COSV54508
- TOPMed rs1690969968
- Likely pathogenic
- Congenital hypothyroidism; Hypothyroidism, congenital, nongoitrous, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.94
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital hypothyroidism; Hypothyroidism, congenital, nongoitro)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available