W2S (p.Trp2Ser) variant of AQP2 (Aquaporin-2)
W2S (p.Trp2Ser) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
W2S (p.Trp2Ser) variant details
- p.Trp2Ser
- TOPMed rs1382799709
- gnomAD rs1382799709
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.65
- CADD 25.00
- PolyPhen-2 0.40
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available