I81S (p.Ile81Ser) variant of AQP4 (Aquaporin-4)
I81S (p.Ile81Ser) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
I81S (p.Ile81Ser) variant details
- p.Ile81Ser
- ExAC rs754458451
- gnomAD rs754458451
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.91
- CADD 28.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available