D14N (p.Asp14Asn) variant of PKD2 (Polycystin-2)
D14N (p.Asp14Asn) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D14N (p.Asp14Asn) variant details
- p.Asp14Asn
- gnomAD 4-88007773-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.09
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available
- Literature evidence available