S23S (p.Ser23Ser) variant of PTH (Parathyroid hormone)
S23S (p.Ser23Ser) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S23S (p.Ser23Ser) variant details
- p.Ser23Ser
- rs377308600
- gnomAD 11-13492787-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0867
- CADD 0.86
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available