I24N (p.Ile24Asn) variant of DSC2 (Desmocollin-2)
I24N (p.Ile24Asn) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
I24N (p.Ile24Asn) variant details
- p.Ile24Asn
- rs2144850570
- ClinGen CA402115188
- ClinVar RCV001524360
- Ensembl rs2144850570
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.26
- MetaLR 0.29
- MetaSVM -0.22
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.43
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)