L19L (p.Leu19Leu) variant of PTH1R (Q03431)
L19L (p.Leu19Leu) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L19L (p.Leu19Leu) variant details
- p.Leu19Leu
- rs780469309
- gnomAD 3-46883616-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 12.90
- Most common in the South Asian population (allele frequency 7.6e-05)
- Structural context available
- Literature evidence available