C57Y (p.Cys57Tyr) variant of PAX8 (Paired box protein Pax-8)
C57Y (p.Cys57Tyr) 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.
C57Y (p.Cys57Tyr) variant details
- p.Cys57Tyr
- rs104893659
- ClinGen CA123465
- ClinVar RCV000014796
- UniProt VAR 012771
- Pathogenic
- Hypothyroidism, congenital, nongoitrous, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Hypothyroidism, congenital, nongoitrous, 2)
- EBI: Pathogenic (in CHNG2)
- UniProt: Pathogenic (in CHNG2)
- Structural context available
- Cited in: Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. (PMID 11232006)
- Cited in: A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for… (PMID 11502839)