L62R (p.Leu62Arg) variant of PAX8 (Paired box protein Pax-8)
L62R (p.Leu62Arg) 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.
L62R (p.Leu62Arg) variant details
- p.Leu62Arg
- rs104893658
- ClinGen CA123463
- ClinVar RCV000014795
- UniProt VAR 012772
- Pathogenic
- Hypothyroidism, congenital, nongoitrous, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- 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: PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. (PMID 9590296)
- Cited in: Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. (PMID 11232006)