R6R (p.Arg6Arg) variant of PKD2 (Polycystin-2)
R6R (p.Arg6Arg) in PKD2 (Polycystin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R6R (p.Arg6Arg) variant details
- p.Arg6Arg
- gnomAD 4-88007751-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 11.40
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available