Q45R (p.Gln45Arg) variant of PTH1R (Q03431)
Q45R (p.Gln45Arg) 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 0.29 / 1. The record also includes population frequency data and structural context.
Q45R (p.Gln45Arg) variant details
- p.Gln45Arg
- rs201908157
- ClinGen CA2359086
- ClinVar RCV002976384
- 1000Genomes rs201908157
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available