C18C (p.Cys18Cys) variant of PTH (Parathyroid hormone)
C18C (p.Cys18Cys) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
C18C (p.Cys18Cys) variant details
- p.Cys18Cys
- gnomAD 11-13492802-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.162
- CADD 7.74
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available