A44G (p.Ala44Gly) variant of AQP4 (Aquaporin-4)
A44G (p.Ala44Gly) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A44G (p.Ala44Gly) variant details
- p.Ala44Gly
- gnomAD 18-26862498-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.41
- MetaLR 0.41
- MetaSVM -0.55
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available