K80Q (p.Lys80Gln) variant of VCL (Vinculin)
K80Q (p.Lys80Gln) 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; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K80Q (p.Lys80Gln) variant details
- p.Lys80Gln
- rs775532257
- ClinGen CA5562728
- ClinVar RCV000588537
- ClinVar RCV002456291
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.14
- CADD 26.30
- PolyPhen-2 0.31
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1W; Hypertrophi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)