N3D (p.Asn3Asp) variant of PKD2 (Polycystin-2)
N3D (p.Asn3Asp) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
N3D (p.Asn3Asp) variant details
- p.Asn3Asp
- gnomAD 4-88007740-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.05
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available