F19S (p.Phe19Ser) variant of PTH (Parathyroid hormone)
F19S (p.Phe19Ser) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
F19S (p.Phe19Ser) variant details
- p.Phe19Ser
- TOPMed rs979065769
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.54
- MetaLR 0.46
- MetaSVM -0.34
- CADD 23.30
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available