E4E (p.Glu4Glu) variant of AQP1 (Aquaporin-1)
E4E (p.Glu4Glu) in AQP1 (Aquaporin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E4E (p.Glu4Glu) variant details
- p.Glu4Glu
- rs374468237
- gnomAD 7-30911921-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 11.20
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Literature evidence available