L40L (p.Leu40Leu) variant of PTH1R (Q03431)
L40L (p.Leu40Leu) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L40L (p.Leu40Leu) variant details
- p.Leu40Leu
- gnomAD 3-46893949-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 11.90
- Population evidence available
- Structural context available
- Literature evidence available