Q40P (p.Gln40Pro) variant of PAX8 (Paired box protein Pax-8)
Q40P (p.Gln40Pro) 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 0.88 / 1. The record also includes published literature and structural context.
Q40P (p.Gln40Pro) variant details
- p.Gln40Pro
- rs104893656
- ClinGen CA123469
- ClinVar RCV000014798
- UniProt VAR 012770
- Pathogenic
- Hypothyroidism, congenital, nongoitrous, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.80
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Hypothyroidism, congenital, nongoitrous, 2)
- EBI: Pathogenic (in CHNG2)
- UniProt: Pathogenic (in CHNG2)
- Structural context available
- Cited in: A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for… (PMID 11502839)
- Cited in: Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. (PMID 11232006)