L14R (p.Leu14Arg) variant of DSP (Desmoplakin)
L14R (p.Leu14Arg) in DSP (Desmoplakin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- rs768370638
- gnomAD 6-7541955-CTG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 28.70
- Population evidence available
- Structural context available
- Literature evidence available