R17L (p.Arg17Leu) variant of PKD2 (Polycystin-2)
R17L (p.Arg17Leu) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autosomal dominant polycystic kidney disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- TOPMed rs938764650
- gnomAD rs938764650
- Uncertain significance
- Inborn genetic diseases; Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.13
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal dominant polycystic kidney di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available