A70V (p.Ala70Val) variant of AQP2 (Aquaporin-2)

A70V (p.Ala70Val) in AQP2 (Aquaporin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in NDI2. The record also includes structural context.

A70V (p.Ala70Val) variant details