A46T (p.Ala46Thr) variant of VCL (Vinculin)
A46T (p.Ala46Thr) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1W; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- rs992545879
- ClinGen CA209683608
- ClinVar RCV003624615
- ClinVar RCV004676241
- Uncertain significance
- Dilated cardiomyopathy 1W; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.21
- AlphaMissense 0.19
- MetaLR 0.23
- MetaSVM -0.73
- CADD 24.10
- PolyPhen-2 0.71
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.1e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)