S23* (p.Ser23Ter) variant of PTH (Parathyroid hormone)
S23* (p.Ser23Ter) in PTH (Parathyroid hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
S23* (p.Ser23Ter) variant details
- p.Ser23Ter
- ExAC rs750295789
- gnomAD rs750295789
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.812
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available