I85V (p.Ile85Val) variant of DSC2 (Desmocollin-2)
I85V (p.Ile85Val) in DSC2 (Desmocollin-2) 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 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
I85V (p.Ile85Val) variant details
- p.Ile85Val
- rs1567982899
- ClinGen CA402114783
- ClinVar RCV001176171
- Ensembl rs1567982899
- Likely benign
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0899
- REVEL 0.09
- CADD 0.32
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Likely benign (Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-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)