Q48E (p.Gln48Glu) variant of VCL (Vinculin)
Q48E (p.Gln48Glu) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q48E (p.Gln48Glu) variant details
- p.Gln48Glu
- rs1431682297
- ClinGen CA377255411
- NCI-TCGA Cosmic COSV9928
- cosmic curated COSV99280
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)