C29R (p.Cys29Arg) variant of AQP3 (Aquaporin-3)
C29R (p.Cys29Arg) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
C29R (p.Cys29Arg) variant details
- p.Cys29Arg
- gnomAD rs1482639297
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.83
- CADD 26.10
- PolyPhen-2 0.88
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available