P8R (p.Pro8Arg) variant of PTH1R (Q03431)
P8R (p.Pro8Arg) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P8R (p.Pro8Arg) variant details
- p.Pro8Arg
- rs1257452316
- ClinGen CA352502917
- ClinVar RCV003882217
- TOPMed rs1257452316
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.08
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available