S80S (p.Ser80Ser) variant of AQP4 (Aquaporin-4)
S80S (p.Ser80Ser) in AQP4 (Aquaporin-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S80S (p.Ser80Ser) variant details
- p.Ser80Ser
- rs748654602
- gnomAD 18-26862389-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 12.20
- Population evidence available
- Structural context available
- Literature evidence available