S7S (p.Ser7Ser) variant of DSP (Desmoplakin)
S7S (p.Ser7Ser) in DSP (Desmoplakin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S7S (p.Ser7Ser) variant details
- p.Ser7Ser
- rs750532252
- gnomAD 6-7541936-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 14.90
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available