L19I (p.Leu19Ile) variant of PTH1R (Q03431)
L19I (p.Leu19Ile) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L19I (p.Leu19Ile) variant details
- p.Leu19Ile
- gnomAD 3-46883614-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.03
- CADD 19.70
- PolyPhen-2 0.03
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available