A20P (p.Ala20Pro) variant of PKD2 (Polycystin-2)
A20P (p.Ala20Pro) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- TOPMed rs1490499917
- gnomAD rs1490499917
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.04
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 6.9e-06)
- Structural context available