G51D (p.Gly51Asp) variant of AQP3 (Aquaporin-3)
G51D (p.Gly51Asp) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G51D (p.Gly51Asp) variant details
- p.Gly51Asp
- gnomAD rs940868590
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.18
- CADD 23.20
- PolyPhen-2 0.96
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available