D3G (p.Asp3Gly) variant of AQP4 (Aquaporin-4)
D3G (p.Asp3Gly) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D3G (p.Asp3Gly) variant details
- p.Asp3Gly
- TOPMed rs1420421864
- gnomAD rs1420421864
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.27
- CADD 22.90
- PolyPhen-2 0.29
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available