G89S (p.Gly89Ser) variant of AQP4 (Aquaporin-4)
G89S (p.Gly89Ser) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G89S (p.Gly89Ser) variant details
- p.Gly89Ser
- cosmic curated COSV67218
- ExAC rs755985700
- TOPMed rs755985700
- gnomAD rs755985700
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.93
- CADD 26.30
- PolyPhen-2 0.92
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available