E4E (p.Glu4Glu) variant of AQP5 (Aquaporin-5)
E4E (p.Glu4Glu) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E4E (p.Glu4Glu) variant details
- p.Glu4Glu
- rs555099046
- gnomAD 12-49962029-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 9.14
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available
- Literature evidence available