C3A (p.Cys3Ala) variant of DSP (Desmoplakin)
C3A (p.Cys3Ala) in DSP (Desmoplakin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
C3A (p.Cys3Ala) variant details
- p.Cys3Ala
- rs1561669760
- gnomAD 6-7541921-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 25.40
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available