S2G (p.Ser2Gly) variant of DSP (Desmoplakin)
S2G (p.Ser2Gly) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S2G (p.Ser2Gly) variant details
- p.Ser2Gly
- ExAC rs772572496
- gnomAD rs772572496
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.16
- MetaLR 0.13
- MetaSVM -0.85
- CADD 24.00
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available