L68P (p.Leu68Pro) variant of PTH (Parathyroid hormone)
L68P (p.Leu68Pro) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L68P (p.Leu68Pro) variant details
- p.Leu68Pro
- ESP rs150454177
- TOPMed rs150454177
- gnomAD rs150454177
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.17
- MetaLR 0.40
- MetaSVM -0.54
- CADD 14.20
- PolyPhen-2 0.08
- SIFT 0.09
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available