I18M (p.Ile18Met) variant of DSP (Desmoplakin)
I18M (p.Ile18Met) 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 0.18 / 1. The record also includes population frequency data and structural context.
I18M (p.Ile18Met) variant details
- p.Ile18Met
- rs1757992278
- ClinGen CA362675604
- ClinVar RCV004014186
- Uncertain significance
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.10
- MetaLR 0.07
- MetaSVM -1.04
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available