A15P (p.Ala15Pro) variant of PKD2 (Polycystin-2)
A15P (p.Ala15Pro) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A15P (p.Ala15Pro) variant details
- p.Ala15Pro
- gnomAD 4-88007776-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.14
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available