R7R (p.Arg7Arg) variant of SLC26A4 (Pendrin)
R7R (p.Arg7Arg) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R7R (p.Arg7Arg) variant details
- p.Arg7Arg
- rs929239906
- gnomAD 7-107661662-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 15.80
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Literature evidence available