A40A (p.Ala40Ala) variant of AQP4 (Aquaporin-4)
A40A (p.Ala40Ala) in AQP4 (Aquaporin-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- gnomAD 18-26862509-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0904
- CADD 1.38
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available