P18L (p.Pro18Leu) variant of PKD2 (Polycystin-2)
P18L (p.Pro18Leu) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- gnomAD 4-88007786-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.06
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available