D25N (p.Asp25Asn) variant of PKD2 (Polycystin-2)
D25N (p.Asp25Asn) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
D25N (p.Asp25Asn) variant details
- p.Asp25Asn
- gnomAD 4-88007806-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.03
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 2.3e-06)
- Structural context available
- Literature evidence available