G70D (p.Gly70Asp) variant of AQP3 (Aquaporin-3)
G70D (p.Gly70Asp) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G70D (p.Gly70Asp) variant details
- p.Gly70Asp
- gnomAD rs1225083688
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.78
- CADD 24.30
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available