R19R (p.Arg19Arg) variant of DSP (Desmoplakin)
R19R (p.Arg19Arg) in DSP (Desmoplakin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R19R (p.Arg19Arg) variant details
- p.Arg19Arg
- rs2113628728
- gnomAD 6-7541972-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 14.40
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available