G2S (p.Gly2Ser) variant of AQP3 (Aquaporin-3)
G2S (p.Gly2Ser) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G2S (p.Gly2Ser) variant details
- p.Gly2Ser
- gnomAD rs1424334828
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.28
- CADD 25.30
- PolyPhen-2 0.91
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available