I11I (p.Ile11Ile) variant of DSP (Desmoplakin)
I11I (p.Ile11Ile) in DSP (Desmoplakin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
I11I (p.Ile11Ile) variant details
- p.Ile11Ile
- gnomAD 6-7541948-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 14.90
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available