R17Q (p.Arg17Gln) variant of PKD2 (Polycystin-2)
R17Q (p.Arg17Gln) in PKD2 (Polycystin-2) 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 0.15 / 1. The record also includes population frequency data and structural context.
R17Q (p.Arg17Gln) variant details
- p.Arg17Gln
- TOPMed rs938764650
- gnomAD rs938764650
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.07
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available