A45A (p.Ala45Ala) variant of AQP1 (Aquaporin-1)
A45A (p.Ala45Ala) in AQP1 (Aquaporin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A45A (p.Ala45Ala) variant details
- p.Ala45Ala
- rs781356338
- gnomAD 7-30912044-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0999
- CADD 2.72
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Literature evidence available