F71V (p.Phe71Val) variant of DSC2 (Desmocollin-2)
F71V (p.Phe71Val) 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; not provided; Familial isolated a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
F71V (p.Phe71Val) variant details
- p.Phe71Val
- rs1256444177
- ClinGen CA402114874
- ClinVar RCV003053019
- ClinVar RCV003533334
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11; not provided; Familial isolated a
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.81
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11; not provided; Fam)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)