N68K (p.Asn68Lys) variant of AQP2 (Aquaporin-2)
N68K (p.Asn68Lys) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
N68K (p.Asn68Lys) variant details
- p.Asn68Lys
- gnomAD 12-49951034-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.75
- CADD 19.40
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available