E130* (p.Glu130Ter) variant of ANKRD1 (Q15327)
E130* (p.Glu130Ter) in ANKRD1 (Q15327) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E130* (p.Glu130Ter) variant details
- p.Glu130Ter
- rs1048316962
- ClinGen CA211424309
- ClinVar RCV000618783
- ClinVar RCV000770305
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 40.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)