V71L (p.Val71Leu) variant of AQP2 (Aquaporin-2)
V71L (p.Val71Leu) in AQP2 (Aquaporin-2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NDI2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
V71L (p.Val71Leu) variant details
- p.Val71Leu
- TOPMed rs149659001
- gnomAD rs149659001
- Pathogenic
- in NDI2
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.87
- CADD 26.10
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available