A82E (p.Ala82Glu) variant of AQP4 (Aquaporin-4)
A82E (p.Ala82Glu) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A82E (p.Ala82Glu) variant details
- p.Ala82Glu
- gnomAD 18-26862384-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.89
- MetaLR 0.93
- MetaSVM 1.05
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available