R16del (p.Arg16del) variant of DSP (Desmoplakin)
R16del (p.Arg16del) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R16del (p.Arg16del) variant details
- rs1217826914
- gnomAD 6-7541958-GGCC-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 21.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available