I96V (p.Ile96Val) variant of AQP4 (Aquaporin-4)
I96V (p.Ile96Val) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I96V (p.Ile96Val) variant details
- p.Ile96Val
- 1000Genomes rs2144968639
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.26
- CADD 21.10
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available