A126A (p.Ala126Ala) variant of AQP3 (Aquaporin-3)
A126A (p.Ala126Ala) in AQP3 (Aquaporin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A126A (p.Ala126Ala) variant details
- p.Ala126Ala
- rs1764121327
- gnomAD 9-33442966-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.57
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available