Q86S (p.Gln86Ser) variant of AQP4 (Aquaporin-4)
Q86S (p.Gln86Ser) in AQP4 (Aquaporin-4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Q86S (p.Gln86Ser) variant details
- p.Gln86Ser
- rs1283015975
- gnomAD 18-26862373-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.814
- CADD 32.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available