Q48* (p.Gln48Ter) variant of VCL (Vinculin)
Q48* (p.Gln48Ter) in VCL (Vinculin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q48* (p.Gln48Ter) variant details
- p.Gln48Ter
- rs1431682297
- ClinGen CA377255415
- ClinVar RCV002392026
- ClinVar RCV005058618
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.856
- CADD 37.00
- 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: Dilated Cardiomyopathy Overview. (PMID 20301486)