I18L (p.Ile18Leu) variant of DSP (Desmoplakin)
I18L (p.Ile18Leu) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I18L (p.Ile18Leu) variant details
- p.Ile18Leu
- rs1309975219
- ClinGen CA362675593
- ClinVar RCV003533668
- ClinVar RCV004011618
- Uncertain significance
- Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.11
- MetaLR 0.09
- MetaSVM -1.03
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair an)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)