R133W (p.Arg133Trp) variant of PAX8 (Paired box protein Pax-8)
R133W (p.Arg133Trp) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital hypothyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
R133W (p.Arg133Trp) variant details
- p.Arg133Trp
- rs1690970101
- ClinGen CA348302108
- cosmic curated COSV10720
- ClinVar RCV001270337
- Pathogenic
- Congenital hypothyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Congenital hypothyroidism)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: acmg act sheets and algorithms (PMID 21938795)