L72L (p.Leu72Leu) variant of PTH (Parathyroid hormone)
L72L (p.Leu72Leu) 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 and published literature.
L72L (p.Leu72Leu) variant details
- p.Leu72Leu
- gnomAD 11-13492539-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0858
- CADD 0.72
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available