G18S (p.Gly18Ser) variant of ABCC9 (O60706)
G18S (p.Gly18Ser) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G18S (p.Gly18Ser) variant details
- p.Gly18Ser
- rs1322335430
- ClinGen CA384133859
- ClinVar RCV000660569
- gnomAD rs1322335430
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.41
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)