L28V (p.Leu28Val) variant of AQP2 (Aquaporin-2)
L28V (p.Leu28Val) in AQP2 (Aquaporin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in NDI2. The record also includes structural context.
L28V (p.Leu28Val) variant details
- p.Leu28Val
- gnomAD rs1333138865
- Uncertain significance
- in NDI2
- Missense
- EBI: Variant of uncertain significance (in NDI2)
- UniProt: Uncertain significance (in NDI2)
- Structural context available