S2I (p.Ser2Ile) variant of DSP (Desmoplakin)
S2I (p.Ser2Ile) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S2I (p.Ser2Ile) variant details
- p.Ser2Ile
- gnomAD 6-7541920-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.24
- CADD 24.50
- PolyPhen-2 0.35
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available