S92S (p.Ser92Ser) variant of AQP4 (Aquaporin-4)
S92S (p.Ser92Ser) in AQP4 (Aquaporin-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S92S (p.Ser92Ser) variant details
- p.Ser92Ser
- rs1253372069
- gnomAD 18-26862353-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0937
- CADD 1.85
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Literature evidence available