T68I (p.Thr68Ile) variant of PAX8 (Paired box protein Pax-8)
T68I (p.Thr68Ile) 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.
T68I (p.Thr68Ile) variant details
- p.Thr68Ile
- rs1691155605
- ClinGen CA348302831
- ClinVar RCV001093620
- Ensembl rs1691155605
- Likely pathogenic
- Hypothyroidism, congenital, nongoitrous, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Hypothyroidism, congenital, nongoitrous, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available