S52T (p.Ser52Thr) variant of VCL (Vinculin)
S52T (p.Ser52Thr) 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.
S52T (p.Ser52Thr) variant details
- p.Ser52Thr
- rs886047216
- ClinGen CA10629031
- ClinVar RCV000405243
- ClinVar RCV004021482
- Uncertain significance
- Dilated cardiomyopathy 1W; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.25
- AlphaMissense 0.11
- MetaLR 0.13
- MetaSVM -0.74
- CADD 25.40
- PolyPhen-2 0.68
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)