R20Q (p.Arg20Gln) variant of AQP3 (Aquaporin-3)
R20Q (p.Arg20Gln) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- gnomAD rs1358573565
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.18
- CADD 20.90
- PolyPhen-2 0.06
- SIFT 0.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available