L25M (p.Leu25Met) variant of PTH1R (Q03431)
L25M (p.Leu25Met) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L25M (p.Leu25Met) variant details
- p.Leu25Met
- gnomAD 3-46883632-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.06
- CADD 24.30
- PolyPhen-2 0.06
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available