R72K (p.Arg72Lys) variant of ABCC9 (O60706)
R72K (p.Arg72Lys) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R72K (p.Arg72Lys) variant details
- p.Arg72Lys
- rs369409311
- ClinGen CA6481926
- ClinVar RCV000466921
- ClinVar RCV002429531
- Uncertain significance
- Dilated cardiomyopathy 1O; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.83
- CADD 23.90
- PolyPhen-2 0.64
- SIFT 0.09
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)