A23A (p.Ala23Ala) variant of PKD2 (Polycystin-2)
A23A (p.Ala23Ala) in PKD2 (Polycystin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A23A (p.Ala23Ala) variant details
- p.Ala23Ala
- gnomAD 4-88007802-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 9.88
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available