S7Y (p.Ser7Tyr) variant of DSP (Desmoplakin)
S7Y (p.Ser7Tyr) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S7Y (p.Ser7Tyr) variant details
- p.Ser7Tyr
- gnomAD 6-7541935-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.35
- CADD 26.30
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available