N3K (p.Asn3Lys) variant of PKD2 (Polycystin-2)
N3K (p.Asn3Lys) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
N3K (p.Asn3Lys) variant details
- p.Asn3Lys
- gnomAD 4-88007742-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.10
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available