V30L (p.Val30Leu) variant of DSP (Desmoplakin)
V30L (p.Val30Leu) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- gnomAD 6-7542003-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.11
- MetaLR 0.04
- MetaSVM -1.10
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available