P17R (p.Pro17Arg) variant of PTH1R (Q03431)
P17R (p.Pro17Arg) 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 0.37 / 1. The record also includes population frequency data and structural context.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- TOPMed rs1169828626
- gnomAD rs1169828626
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.12
- CADD 22.00
- PolyPhen-2 0.05
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available