L10M (p.Leu10Met) variant of PTH1R (Q03431)
L10M (p.Leu10Met) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L10M (p.Leu10Met) variant details
- p.Leu10Met
- gnomAD 3-46883587-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.05
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available