R17W (p.Arg17Trp) variant of PKD2 (Polycystin-2)
R17W (p.Arg17Trp) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R17W (p.Arg17Trp) variant details
- p.Arg17Trp
- gnomAD 4-88007782-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.12
- CADD 22.20
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available