Q32H (p.Gln32His) variant of AQP4 (Aquaporin-4)
Q32H (p.Gln32His) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q32H (p.Gln32His) variant details
- p.Gln32His
- gnomAD rs2054972295
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.30
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available