Q57* (p.Gln57Ter) variant of ABCC9 (O60706)
Q57* (p.Gln57Ter) in ABCC9 (O60706) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q57* (p.Gln57Ter) variant details
- p.Gln57Ter
- rs727502876
- ClinGen CA175165
- ClinVar RCV000150123
- ClinVar RCV003509497
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.015)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)