S54C (p.Ser54Cys) variant of PAX8 (Paired box protein Pax-8)
S54C (p.Ser54Cys) 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 Hypothyroidism, congenital, nongoitrous, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
S54C (p.Ser54Cys) variant details
- p.Ser54Cys
- rs104893660
- ClinGen CA348303328
- ClinVar RCV000502399
- Ensembl rs104893660
- Likely pathogenic
- Hypothyroidism, congenital, nongoitrous, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (Hypothyroidism, congenital, nongoitrous, 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available