N8* (p.Asn8Ter) variant of ABCC9 (O60706)
N8* (p.Asn8Ter) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
N8* (p.Asn8Ter) variant details
- p.Asn8Ter
- rs1264575683
- ClinGen CA686453304
- ClinVar RCV001884057
- ClinVar RCV002425181
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 23.50
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)