P12A (p.Pro12Ala) variant of PKD2 (Polycystin-2)
P12A (p.Pro12Ala) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P12A (p.Pro12Ala) variant details
- p.Pro12Ala
- TOPMed rs1726222650
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.09
- CADD 21.40
- PolyPhen-2 0.09
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available