R31H (p.Arg31His) variant of PAX8 (Paired box protein Pax-8)
R31H (p.Arg31His) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
R31H (p.Arg31His) variant details
- p.Arg31His
- rs104893657
- ClinGen CA123461
- NCI-TCGA Cosmic COSV9963
- cosmic curated COSV99639
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (not provided)
- 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)