L25L (p.Leu25Leu) variant of PTH1R (Q03431)
L25L (p.Leu25Leu) in PTH1R (Q03431) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L25L (p.Leu25Leu) variant details
- p.Leu25Leu
- gnomAD 3-46883632-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 22.20
- Population evidence available
- Structural context available
- Literature evidence available