L19P (p.Leu19Pro) variant of PTH1R (Q03431)
L19P (p.Leu19Pro) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- gnomAD 3-46883615-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.32
- CADD 29.80
- PolyPhen-2 0.82
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available