I87N (p.Ile87Asn) variant of ABCC9 (O60706)
I87N (p.Ile87Asn) in ABCC9 (O60706) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
I87N (p.Ile87Asn) variant details
- p.Ile87Asn
- rs2541877986
- ClinGen CA2580085287
- ClinVar RCV002995528
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)