I96N (p.Ile96Asn) variant of AQP4 (Aquaporin-4)
I96N (p.Ile96Asn) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
I96N (p.Ile96Asn) variant details
- p.Ile96Asn
- gnomAD rs1384097895
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.93
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available