C3C (p.Cys3Cys) variant of DSP (Desmoplakin)
C3C (p.Cys3Cys) in DSP (Desmoplakin) is a synonymous 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.
C3C (p.Cys3Cys) variant details
- p.Cys3Cys
- rs769032973
- gnomAD 6-7541924-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 15.90
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available