P18A (p.Pro18Ala) variant of PKD2 (Polycystin-2)
P18A (p.Pro18Ala) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P18A (p.Pro18Ala) variant details
- p.Pro18Ala
- gnomAD 4-88007785-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.10
- CADD 3.38
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available