L19F (p.Leu19Phe) variant of PTH1R (Q03431)
L19F (p.Leu19Phe) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- gnomAD rs1406684330
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.08
- CADD 23.20
- PolyPhen-2 0.69
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available