R43G (p.Arg43Gly) variant of PTH1R (Q03431)
R43G (p.Arg43Gly) 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 and structural context.
R43G (p.Arg43Gly) variant details
- p.Arg43Gly
- 1000Genomes rs571011973
- ExAC rs571011973
- gnomAD rs571011973
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.10
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.34
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available