R5R (p.Arg5Arg) variant of AQP2 (Aquaporin-2)
R5R (p.Arg5Arg) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- rs761283952
- gnomAD 12-49950845-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 5.99
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available