G93S (p.Gly93Ser) variant of AQP4 (Aquaporin-4)
G93S (p.Gly93Ser) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G93S (p.Gly93Ser) variant details
- p.Gly93Ser
- cosmic curated COSV67218
- TOPMed rs1228387793
- gnomAD rs1228387793
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.92
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available