R5Q (p.Arg5Gln) variant of PTH1R (Q03431)
R5Q (p.Arg5Gln) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R5Q (p.Arg5Gln) variant details
- p.Arg5Gln
- gnomAD rs1479370698
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.05
- CADD 23.70
- PolyPhen-2 0.19
- SIFT 0.26
- Population evidence available
- Structural context available