A47E (p.Ala47Glu) variant of AQP2 (Aquaporin-2)
A47E (p.Ala47Glu) in AQP2 (Aquaporin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in NDI2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A47E (p.Ala47Glu) variant details
- p.Ala47Glu
- TOPMed rs995684800
- gnomAD rs995684800
- Likely pathogenic
- in NDI2
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.77
- AlphaMissense 0.22
- MetaLR 0.76
- MetaSVM -0.37
- CADD 23.70
- PolyPhen-2 0.06
- EBI: Likely pathogenic (in NDI2)
- UniProt: Likely pathogenic (in NDI2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available