Y19H (p.Tyr19His) variant of AQP3 (Aquaporin-3)
Y19H (p.Tyr19His) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Y19H (p.Tyr19His) variant details
- p.Tyr19His
- gnomAD rs1300008376
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.18
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available