D14E (p.Asp14Glu) variant of PKD2 (Polycystin-2)
D14E (p.Asp14Glu) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D14E (p.Asp14Glu) variant details
- p.Asp14Glu
- gnomAD 4-88007775-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.08
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available