E19D (p.Glu19Asp) variant of ANKRD1 (Q15327)
E19D (p.Glu19Asp) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- rs1431425358
- ClinGen CA377554121
- ClinVar RCV001772856
- ClinVar RCV003642973
- Conflicting interpretations
- Cardiovascular phenotype; not provided; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.057
- REVEL 0.06
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; ANKRD1-related dilated c)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)