S79F (p.Ser79Phe) variant of PAX8 (Paired box protein Pax-8)
S79F (p.Ser79Phe) 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 0.97 / 1. The record also includes structural context.
S79F (p.Ser79Phe) variant details
- p.Ser79Phe
- rs1691154033
- ClinGen CA348302717
- ClinVar RCV001170073
- Ensembl rs1691154033
- Likely pathogenic
- Hypothyroidism, congenital, nongoitrous, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (Hypothyroidism, congenital, nongoitrous, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available