G34E (p.Gly34Glu) variant of AQP1 (Aquaporin-1)
G34E (p.Gly34Glu) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
G34E (p.Gly34Glu) variant details
- p.Gly34Glu
- rs144480541
- gnomAD 7-30921711-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 3.06
- SIFT 0.00
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Literature evidence available