N3I (p.Asn3Ile) variant of PKD2 (Polycystin-2)
N3I (p.Asn3Ile) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N3I (p.Asn3Ile) variant details
- p.Asn3Ile
- gnomAD 4-88007741-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.03
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available