I24F (p.Ile24Phe) variant of DSC2 (Desmocollin-2)
I24F (p.Ile24Phe) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
I24F (p.Ile24Phe) variant details
- p.Ile24Phe
- rs1228372400
- ClinGen CA402115189
- ClinVar RCV002721441
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.09
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)