A44A (p.Ala44Ala) variant of AQP4 (Aquaporin-4)
A44A (p.Ala44Ala) in AQP4 (Aquaporin-4) 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.
A44A (p.Ala44Ala) variant details
- p.Ala44Ala
- gnomAD 18-26862497-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available