L68L (p.Leu68Leu) variant of PTH (Parathyroid hormone)
L68L (p.Leu68Leu) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L68L (p.Leu68Leu) variant details
- p.Leu68Leu
- rs1847488185
- gnomAD 11-13492549-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0882
- CADD 1.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available