R6G (p.Arg6Gly) variant of PKD2 (Polycystin-2)
R6G (p.Arg6Gly) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- gnomAD 4-88007749-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.08
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available