H83R (p.His83Arg) variant of ABCC9 (O60706)
H83R (p.His83Arg) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
H83R (p.His83Arg) variant details
- p.His83Arg
- rs1949379077
- ClinGen CA384131408
- ClinVar RCV003511442
- TOPMed rs1949379077
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.83
- CADD 23.00
- PolyPhen-2 0.79
- SIFT 0.35
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)