Q47E (p.Gln47Glu) variant of PTH1R (Q03431)
Q47E (p.Gln47Glu) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q47E (p.Gln47Glu) variant details
- p.Gln47Glu
- ESP rs138009937
- ExAC rs138009937
- TOPMed rs138009937
- gnomAD rs138009937
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.04
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available