A32A (p.Ala32Ala) variant of AQP1 (Aquaporin-1)
A32A (p.Ala32Ala) in AQP1 (Aquaporin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A32A (p.Ala32Ala) variant details
- p.Ala32Ala
- rs868506968
- gnomAD 7-30921715-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 7.84
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Literature evidence available