V18L (p.Val18Leu) variant of PTH1R (Q03431)
V18L (p.Val18Leu) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- ExAC rs772304416
- TOPMed rs772304416
- gnomAD rs772304416
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.06
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available