I18T (p.Ile18Thr) variant of DSP (Desmoplakin)
I18T (p.Ile18Thr) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiomyopathy. 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.
I18T (p.Ile18Thr) variant details
- p.Ile18Thr
- rs769533657
- ClinGen CA133980082
- ClinVar RCV001525876
- Ensembl rs769533657
- Likely benign
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -0.96
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)