R16R (p.Arg16Arg) variant of DSP (Desmoplakin)
R16R (p.Arg16Arg) in DSP (Desmoplakin) 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.
R16R (p.Arg16Arg) variant details
- p.Arg16Arg
- rs755777329
- gnomAD 6-7541963-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 15.10
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available