P18Q (p.Pro18Gln) variant of PKD2 (Polycystin-2)
P18Q (p.Pro18Gln) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P18Q (p.Pro18Gln) variant details
- p.Pro18Gln
- Ensembl rs1560591768
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.05
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the South Asian population (allele frequency 3.4e-05)
- Structural context available