C18R (p.Cys18Arg) variant of PTH (Parathyroid hormone)
C18R (p.Cys18Arg) in PTH (Parathyroid hormone) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypoparathyroidism, familial isolated 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
C18R (p.Cys18Arg) variant details
- p.Cys18Arg
- rs104894271
- ClinGen CA123436
- ClinVar RCV000014764
- UniProt VAR 006047
- Pathogenic
- Hypoparathyroidism, familial isolated 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- AlphaMissense 0.72
- MetaLR 0.53
- MetaSVM 0.31
- PolyPhen-2 0.74
- SIFT 0.03
- EVE 0.61
- ClinVar: Pathogenic (Hypoparathyroidism, familial isolated 1)
- EBI: Pathogenic (in FIH1)
- UniProt: Pathogenic (in FIH1)
- Structural context available
- Cited in: Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a… (PMID 18056632)
- Cited in: Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated… (PMID 2212001)