R10R (p.Arg10Arg) variant of DSP (Desmoplakin)
R10R (p.Arg10Arg) in DSP (Desmoplakin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R10R (p.Arg10Arg) variant details
- p.Arg10Arg
- gnomAD 6-7541945-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 13.90
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available