T59I (p.Thr59Ile) variant of DSC2 (Desmocollin-2)
T59I (p.Thr59Ile) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Cardiovascular phenotype; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T59I (p.Thr59Ile) variant details
- p.Thr59Ile
- rs544457730
- ClinGen CA033196
- ClinVar RCV002401801
- ClinVar RCV005405913
- Conflicting interpretations
- not specified; Cardiovascular phenotype; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.05
- CADD 16.30
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiovascular phenotype; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)