A15A (p.Ala15Ala) variant of PKD2 (Polycystin-2)
A15A (p.Ala15Ala) in PKD2 (Polycystin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A15A (p.Ala15Ala) variant details
- p.Ala15Ala
- gnomAD 4-88007778-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.18
- Population evidence available
- Structural context available
- Literature evidence available