R28Q (p.Arg28Gln) variant of PKD2 (Polycystin-2)
R28Q (p.Arg28Gln) in PKD2 (Polycystin-2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- 1000Genomes rs1805044
- ExAC rs1805044
- TOPMed rs1805044
- gnomAD rs1805044
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.08
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Benign (in dbSNP:rs1805044)
- UniProt: Benign (in dbSNP:rs1805044)
- Population evidence available
- Structural context available