V204E (p.Val204Glu) variant of PTH1R (Q03431)
V204E (p.Val204Glu) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Metaphyseal chondrodysplasia, Jansen type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
V204E (p.Val204Glu) variant details
- p.Val204Glu
- rs769180471
- ClinGen CA352495797
- ClinVar RCV000723315
- ClinVar RCV003992376
- Likely pathogenic
- Metaphyseal chondrodysplasia, Jansen type
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.13
- MetaLR 0.24
- MetaSVM -0.63
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.28
- ClinVar: Likely pathogenic (Metaphyseal chondrodysplasia, Jansen type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available