R22G (p.Arg22Gly) variant of PKD2 (Polycystin-2)
R22G (p.Arg22Gly) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R22G (p.Arg22Gly) variant details
- p.Arg22Gly
- gnomAD 4-88007797-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.07
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available