I47S (p.Ile47Ser) variant of AQP4 (Aquaporin-4)
I47S (p.Ile47Ser) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
I47S (p.Ile47Ser) variant details
- p.Ile47Ser
- gnomAD 18-26862489-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.85
- MetaLR 0.78
- MetaSVM 0.66
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available