V49A (p.Val49Ala) variant of DSC2 (Desmocollin-2)
V49A (p.Val49Ala) 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; Familial isolated arrhythmogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V49A (p.Val49Ala) variant details
- p.Val49Ala
- rs1275514075
- ClinGen CA402115022
- ClinVar RCV001192239
- ClinVar RCV003517316
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11; Familial isolated arrhythmogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.33
- CADD 24.20
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11; Familial isolated)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)