Y28S (p.Tyr28Ser) variant of DSP (Desmoplakin)
Y28S (p.Tyr28Ser) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Y28S (p.Tyr28Ser) variant details
- p.Tyr28Ser
- gnomAD 6-7541998-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.34
- MetaLR 0.31
- MetaSVM -0.40
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.31
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available