A20A (p.Ala20Ala) variant of PKD2 (Polycystin-2)
A20A (p.Ala20Ala) in PKD2 (Polycystin-2) is a synonymous 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.
A20A (p.Ala20Ala) variant details
- p.Ala20Ala
- gnomAD 4-88007793-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.158
- CADD 10.90
- Most common in the East Asian population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available