D44E (p.Asp44Glu) variant of ANKRD1 (Q15327)
D44E (p.Asp44Glu) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D44E (p.Asp44Glu) variant details
- p.Asp44Glu
- rs375587589
- ESP rs375587589
- ExAC rs375587589
- TOPMed rs375587589
- Uncertain significance
- not provided; Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.38
- CADD 22.60
- PolyPhen-2 0.91
- SIFT 0.20
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; ANKRD1-related dilated c)
- 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: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)