E3E (p.Glu3Glu) variant of AQP2 (Aquaporin-2)
E3E (p.Glu3Glu) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E3E (p.Glu3Glu) variant details
- p.Glu3Glu
- rs748337255
- gnomAD 12-49950839-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.58
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available