R6L (p.Arg6Leu) variant of PKD2 (Polycystin-2)
R6L (p.Arg6Leu) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polycystic kidney disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- TOPMed rs1307960365
- gnomAD rs1307960365
- Uncertain significance
- Polycystic kidney disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.11
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (Polycystic kidney disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available