R24R (p.Arg24Arg) variant of SLC26A4 (Pendrin)
R24R (p.Arg24Arg) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R24R (p.Arg24Arg) variant details
- p.Arg24Arg
- gnomAD 7-107661711-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 19.10
- Population evidence available
- Structural context available
- Literature evidence available