L14L (p.Leu14Leu) variant of PTH1R (Q03431)
L14L (p.Leu14Leu) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- gnomAD 3-46883601-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 11.70
- Population evidence available
- Structural context available
- Literature evidence available