P26Q (p.Pro26Gln) variant of PKD2 (Polycystin-2)
P26Q (p.Pro26Gln) 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 and structural context.
P26Q (p.Pro26Gln) variant details
- p.Pro26Gln
- gnomAD rs1447102982
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.13
- CADD 19.90
- PolyPhen-2 0.27
- SIFT 0.01
- Population evidence available
- Structural context available