H27D (p.His27Asp) variant of VCL (Vinculin)
H27D (p.His27Asp) 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; not provided; Dilated cardiomyopathy 1W. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
H27D (p.His27Asp) variant details
- p.His27Asp
- rs1486411009
- ClinGen CA377255068
- ClinVar RCV002306169
- ClinVar RCV002416570
- Uncertain significance
- Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.97
- MetaLR 0.26
- MetaSVM -0.23
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.48
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)