T410R (p.Thr410Arg) variant of PTH1R (Q03431)
T410R (p.Thr410Arg) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Metaphyseal chondrodysplasia, Jansen type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
T410R (p.Thr410Arg) variant details
- p.Thr410Arg
- rs121434602
- ClinGen CA123427
- ClinVar RCV000014755
- UniProt VAR 038811
- Pathogenic
- Metaphyseal chondrodysplasia, Jansen type
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- AlphaMissense 1.00
- MetaLR 0.36
- MetaSVM 0.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (Metaphyseal chondrodysplasia, Jansen type)
- EBI: Pathogenic (in MCDJ)
- UniProt: Pathogenic (in MCDJ)
- Structural context available
- Cited in: A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel… (PMID 15240651)
- Cited in: A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. (PMID 10487664)