S32S (p.Ser32Ser) variant of DSP (Desmoplakin)
S32S (p.Ser32Ser) in DSP (Desmoplakin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S32S (p.Ser32Ser) variant details
- p.Ser32Ser
- rs1440994214
- gnomAD 6-7542011-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 12.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available