A45T (p.Ala45Thr) variant of VCL (Vinculin)
A45T (p.Ala45Thr) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1W. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- rs1840154859
- ClinGen CA377255364
- ClinVar RCV002387677
- ClinVar RCV003094996
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.12
- AlphaMissense 0.09
- MetaLR 0.11
- MetaSVM -0.96
- CADD 23.70
- PolyPhen-2 0.94
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)