L12L (p.Leu12Leu) variant of PTH1R (Q03431)
L12L (p.Leu12Leu) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- gnomAD 3-46883595-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 13.40
- Population evidence available
- Structural context available
- Literature evidence available