R5W (p.Arg5Trp) variant of PTH1R (Q03431)
R5W (p.Arg5Trp) in PTH1R (Q03431) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R5W (p.Arg5Trp) variant details
- p.Arg5Trp
- gnomAD rs1250201262
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.19
- CADD 25.30
- PolyPhen-2 0.64
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available