A45T (p.Ala45Thr) variant of DSC2 (Desmocollin-2)
A45T (p.Ala45Thr) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Familial isolated arrhythmogenic right v. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- rs1467311353
- ClinGen CA402115052
- ClinVar RCV001180351
- ClinVar RCV001875984
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Familial isolated arrhythmogenic right v
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.23
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Familial isolated arrhyt)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)