S54G (p.Ser54Gly) variant of PAX8 (Paired box protein Pax-8)
S54G (p.Ser54Gly) 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 Hypothyroidism, congenital, nongoitrous, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
S54G (p.Ser54Gly) variant details
- p.Ser54Gly
- rs104893660
- ClinGen CA123467
- ClinVar RCV000014797
- Ensembl rs104893660
- 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: Pathogenic (Hypothyroidism, congenital, nongoitrous, 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with… (PMID 15356023)