G13W (p.Gly13Trp) variant of PKD2 (Polycystin-2)
G13W (p.Gly13Trp) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G13W (p.Gly13Trp) variant details
- p.Gly13Trp
- gnomAD 4-88007770-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.16
- CADD 27.10
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available