A23V (p.Ala23Val) variant of DSC2 (Desmocollin-2)
A23V (p.Ala23Val) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- rs1478050070
- ClinGen CA402115206
- ClinVar RCV002378051
- ClinVar RCV005403206
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.05
- AlphaMissense 0.12
- MetaLR 0.08
- MetaSVM -1.07
- CADD 16.90
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)