C18G (p.Cys18Gly) variant of PTH (Parathyroid hormone)
C18G (p.Cys18Gly) in PTH (Parathyroid hormone) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FIH1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
C18G (p.Cys18Gly) variant details
- p.Cys18Gly
- TOPMed rs104894271
- gnomAD rs104894271
- Pathogenic
- in FIH1
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.32
- AlphaMissense 0.72
- MetaLR 0.53
- MetaSVM 0.31
- CADD 18.40
- PolyPhen-2 0.74
- EBI: Pathogenic (in FIH1)
- UniProt: Pathogenic (in FIH1)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available