S23P (p.Ser23Pro) variant of PTH (Parathyroid hormone)
S23P (p.Ser23Pro) 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 0.45 / 1. The record also includes published literature and structural context.
S23P (p.Ser23Pro) variant details
- p.Ser23Pro
- rs104894272
- ClinGen CA123437
- ClinVar RCV000014766
- UniProt VAR 018464
- Pathogenic
- Hypoparathyroidism, familial isolated 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.20
- MetaLR 0.34
- MetaSVM -0.69
- PolyPhen-2 0.55
- SIFT 0.22
- EVE 0.52
- ClinVar: Pathogenic (Hypoparathyroidism, familial isolated 1)
- EBI: Pathogenic (in FIH1)
- UniProt: Pathogenic (in FIH1)
- Structural context available
- Cited in: A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive… (PMID 10523031)
- Cited in: Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a… (PMID 18056632)