A67S (p.Ala67Ser) variant of PTH (Parathyroid hormone)
A67S (p.Ala67Ser) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A67S (p.Ala67Ser) variant details
- p.Ala67Ser
- gnomAD 11-13492554-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.10
- MetaLR 0.27
- MetaSVM -0.90
- CADD 3.54
- PolyPhen-2 0.03
- SIFT 0.93
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available