K2N (p.Lys2Asn) variant of AQP5 (Aquaporin-5)
K2N (p.Lys2Asn) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K2N (p.Lys2Asn) variant details
- p.Lys2Asn
- gnomAD 12-49962023-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.24
- CADD 22.00
- PolyPhen-2 0.06
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available