E21V (p.Glu21Val) variant of DSP (Desmoplakin)
E21V (p.Glu21Val) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E21V (p.Glu21Val) variant details
- p.Glu21Val
- gnomAD 6-7541977-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.31
- MetaLR 0.27
- MetaSVM -0.43
- CADD 24.60
- PolyPhen-2 0.35
- SIFT 0.01
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available