Q47Q (p.Gln47Gln) variant of AQP1 (Aquaporin-1)
Q47Q (p.Gln47Gln) in AQP1 (Aquaporin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q47Q (p.Gln47Gln) variant details
- p.Gln47Gln
- gnomAD 7-30912050-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 10.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available