R10Q (p.Arg10Gln) variant of DSP (Desmoplakin)
R10Q (p.Arg10Gln) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- gnomAD 6-7541944-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.30
- CADD 31.00
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available