K16N (p.Lys16Asn) variant of PKD2 (Polycystin-2)
K16N (p.Lys16Asn) 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.
K16N (p.Lys16Asn) variant details
- p.Lys16Asn
- gnomAD 4-88007781-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.02
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available