A2A (p.Ala2Ala) variant of AQP1 (Aquaporin-1)
A2A (p.Ala2Ala) in AQP1 (Aquaporin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs1791174003
- gnomAD 7-30911915-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available