Q36R (p.Gln36Arg) variant of AQP2 (Aquaporin-2)
Q36R (p.Gln36Arg) in AQP2 (Aquaporin-2) 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.
Q36R (p.Gln36Arg) variant details
- p.Gln36Arg
- Ensembl rs1947324028
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.16
- CADD 6.45
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available