D14A (p.Asp14Ala) variant of PKD2 (Polycystin-2)
D14A (p.Asp14Ala) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D14A (p.Asp14Ala) variant details
- p.Asp14Ala
- rs1474473957
- gnomAD 4-88007773-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 22.30
- Most common in the African/African-American population (allele frequency 5e-05)
- Structural context available
- Literature evidence available