E63K (p.Glu63Lys) variant of ANKRD1 (Q15327)
E63K (p.Glu63Lys) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E63K (p.Glu63Lys) variant details
- p.Glu63Lys
- rs143588078
- ClinGen CA5598825
- ClinVar RCV001372101
- ClinVar RCV002413893
- Uncertain significance
- Cardiovascular phenotype; not provided; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.22
- CADD 22.70
- PolyPhen-2 0.13
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; ANKRD1-related dilated c)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00022)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)