Y104C (p.Tyr104Cys) variant of AQP3 (Aquaporin-3)
Y104C (p.Tyr104Cys) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Y104C (p.Tyr104Cys) variant details
- p.Tyr104Cys
- ExAC rs750041458
- gnomAD rs750041458
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.85
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available