G5* (p.Gly5Ter) variant of DSP (Desmoplakin)
G5* (p.Gly5Ter) in DSP (Desmoplakin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G5* (p.Gly5Ter) variant details
- p.Gly5Ter
- gnomAD 6-7541928-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.82
- CADD 38.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available