Q59E (p.Gln59Glu) variant of ANKRD1 (Q15327)
Q59E (p.Gln59Glu) 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; ANKRD1-related dilated cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q59E (p.Gln59Glu) variant details
- p.Gln59Glu
- rs1057521825
- ClinGen CA16606114
- ClinVar RCV000422029
- ClinVar RCV002402154
- Uncertain significance
- not provided; ANKRD1-related dilated cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.10
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; ANKRD1-related dilated cardiomyopathy; Cardiovascu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)