E19Q (p.Glu19Gln) variant of ANKRD1 (Q15327)
E19Q (p.Glu19Gln) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary dilated cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- rs886047480
- ClinGen CA10632855
- ClinVar RCV000372006
- ClinVar RCV005659890
- Uncertain significance
- Primary dilated cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.07
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Primary dilated cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)