S52S (p.Ser52Ser) variant of AQP4 (Aquaporin-4)
S52S (p.Ser52Ser) in AQP4 (Aquaporin-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S52S (p.Ser52Ser) variant details
- p.Ser52Ser
- rs757600248
- gnomAD 18-26862473-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 9.90
- Population evidence available
- Structural context available
- Literature evidence available