G30E (p.Gly30Glu) variant of AQP1 (Aquaporin-1)
G30E (p.Gly30Glu) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- rs1791501125
- gnomAD 7-30921602-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.65
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available