R11R (p.Arg11Arg) variant of AQP2 (Aquaporin-2)
R11R (p.Arg11Arg) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R11R (p.Arg11Arg) variant details
- p.Arg11Arg
- rs1394641835
- gnomAD 12-49950863-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 9.87
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available