D14G (p.Asp14Gly) variant of PKD2 (Polycystin-2)
D14G (p.Asp14Gly) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D14G (p.Asp14Gly) variant details
- p.Asp14Gly
- gnomAD 4-88007769-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 26.30
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available