S48F (p.Ser48Phe) variant of PAX8 (Paired box protein Pax-8)
S48F (p.Ser48Phe) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
S48F (p.Ser48Phe) variant details
- p.Ser48Phe
- rs121917719
- ClinGen CA123471
- ClinVar RCV000014799
- Ensembl rs121917719
- Pathogenic
- Hypothyroidism, congenital, nongoitrous, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.98
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hypothyroidism, congenital, nongoitrous, 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with… (PMID 15718293)