R5G (p.Arg5Gly) variant of PTH1R (Q03431)
R5G (p.Arg5Gly) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- rs1250201262
- ClinGen CA352502871
- ClinVar RCV001914905
- gnomAD rs1250201262
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.07
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available