S2S (p.Ser2Ser) variant of DSP (Desmoplakin)
S2S (p.Ser2Ser) in DSP (Desmoplakin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S2S (p.Ser2Ser) variant details
- p.Ser2Ser
- rs776052488
- gnomAD 6-7541921-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 15.10
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available