H16R (p.His16Arg) variant of AQP3 (Aquaporin-3)
H16R (p.His16Arg) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H16R (p.His16Arg) variant details
- p.His16Arg
- gnomAD rs1348741263
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.23
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available