L14V (p.Leu14Val) variant of DSP (Desmoplakin)
L14V (p.Leu14Val) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic cardiomyopathy with wooly hair and keratoderma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- rs1282398925
- ClinGen CA362675557
- ClinVar RCV004015989
- Uncertain significance
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.24
- MetaLR 0.26
- MetaSVM -0.61
- CADD 24.40
- PolyPhen-2 0.90
- SIFT 0.02
- ClinVar: Uncertain significance (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available