C76S (p.Cys76Ser) variant of AQP4 (Aquaporin-4)
C76S (p.Cys76Ser) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
C76S (p.Cys76Ser) variant details
- p.Cys76Ser
- TOPMed rs1407332952
- gnomAD rs1407332952
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.69
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available