S34V (p.Ser34Val) variant of PTH (Parathyroid hormone)
S34V (p.Ser34Val) in PTH (Parathyroid hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and published literature.
S34V (p.Ser34Val) variant details
- p.Ser34Val
- gnomAD 11-13492653-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 26.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available