I458K (p.Ile458Lys) variant of PTH1R (Q03431)
I458K (p.Ile458Lys) 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 structural context.
I458K (p.Ile458Lys) variant details
- p.Ile458Lys
- rs121434600
- ClinGen CA352503277
- ClinVar RCV001332362
- Ensembl rs121434600
- Pathogenic
- Metaphyseal chondrodysplasia, Jansen type
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.93
- MetaLR 0.46
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Metaphyseal chondrodysplasia, Jansen type)
- EBI: Pathogenic (in MCDJ)
- UniProt: Pathogenic (in MCDJ)
- Structural context available