K35E (p.Lys35Glu) variant of VCL (Vinculin)
K35E (p.Lys35Glu) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K35E (p.Lys35Glu) variant details
- p.Lys35Glu
- rs139329923
- ClinGen CA209683575
- ClinVar RCV002042394
- ClinVar RCV005772324
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.36
- CADD 25.80
- PolyPhen-2 0.47
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)