N68N (p.Asn68Asn) variant of AQP2 (Aquaporin-2)
N68N (p.Asn68Asn) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N68N (p.Asn68Asn) variant details
- p.Asn68Asn
- rs57915981
- gnomAD 12-49951034-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.343
- AlphaMissense 0.10
- MetaLR 0.82
- MetaSVM 0.46
- CADD 2.81
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the 1KG:GWD population (allele frequency 0.039)
- Structural context available
- Literature evidence available