G34S (p.Gly34Ser) variant of DSP (Desmoplakin)
G34S (p.Gly34Ser) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G34S (p.Gly34Ser) variant details
- p.Gly34Ser
- gnomAD 6-7542015-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.21
- MetaLR 0.09
- MetaSVM -1.02
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available