R5P (p.Arg5Pro) variant of PTH1R (Q03431)
R5P (p.Arg5Pro) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R5P (p.Arg5Pro) variant details
- p.Arg5Pro
- gnomAD rs1479370698
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.13
- CADD 24.30
- PolyPhen-2 0.41
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available