H223R (p.His223Arg) variant of PTH1R (Q03431)
H223R (p.His223Arg) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Primary failure of tooth eruption. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
H223R (p.His223Arg) variant details
- p.His223Arg
- rs121434597
- ClinGen CA123421
- ClinVar RCV000014749
- ClinVar RCV002247338
- Pathogenic
- not provided; Primary failure of tooth eruption
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- AlphaMissense 0.99
- MetaLR 0.51
- MetaSVM 0.41
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (not provided; Primary failure of tooth eruption)
- EBI: Pathogenic (in MCDJ)
- UniProt: Pathogenic (in MCDJ)
- Structural context available
- Cited in: Characterization of a PTH1R missense mutation responsible for Jansen type metaphyseal chondrodysplasia. (PMID 27160269)
- Cited in: A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. (PMID 7701349)