L68R (p.Leu68Arg) variant of PTH (Parathyroid hormone)
L68R (p.Leu68Arg) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L68R (p.Leu68Arg) variant details
- p.Leu68Arg
- ESP rs150454177
- TOPMed rs150454177
- gnomAD rs150454177
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.17
- MetaLR 0.37
- MetaSVM -0.60
- CADD 13.70
- PolyPhen-2 0.07
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available