R10G (p.Arg10Gly) variant of DSP (Desmoplakin)
R10G (p.Arg10Gly) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- gnomAD 6-7541943-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.37
- CADD 26.30
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available