R80Q (p.Arg80Gln) variant of PKD1 (Polycystin-1)
R80Q (p.Arg80Gln) in PKD1 (Polycystin-1) 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 0.08 / 1. The record also includes population frequency data and structural context.
R80Q (p.Arg80Gln) variant details
- p.Arg80Gln
- rs1190107349
- ClinGen CA394396275
- ClinVar RCV000712601
- TOPMed rs1190107349
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0775
- REVEL 0.04
- MetaLR 0.08
- MetaSVM -1.03
- CADD 0.24
- PolyPhen-2 0.02
- SIFT 0.51
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00017)
- Structural context available