G30G (p.Gly30Gly) variant of AQP1 (Aquaporin-1)
G30G (p.Gly30Gly) in AQP1 (Aquaporin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G30G (p.Gly30Gly) variant details
- p.Gly30Gly
- rs1444981926
- gnomAD 7-30921603-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 4.70
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available