S34G (p.Ser34Gly) variant of PTH (Parathyroid hormone)
S34G (p.Ser34Gly) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
S34G (p.Ser34Gly) variant details
- p.Ser34Gly
- ExAC rs767865413
- TOPMed rs767865413
- gnomAD rs767865413
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.58
- MetaLR 0.72
- MetaSVM 0.56
- CADD 23.10
- PolyPhen-2 0.96
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 4.8e-05)