R27R (p.Arg27Arg) variant of DSP (Desmoplakin)
R27R (p.Arg27Arg) in DSP (Desmoplakin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R27R (p.Arg27Arg) variant details
- p.Arg27Arg
- rs773559423
- gnomAD 6-7541996-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 10.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available