L42L (p.Leu42Leu) variant of PTH (Parathyroid hormone)
L42L (p.Leu42Leu) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- rs751747610
- gnomAD 11-13492629-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 8.95
- Population evidence available
- Structural context available
- Literature evidence available