I44V (p.Ile44Val) variant of ABCC9 (O60706)
I44V (p.Ile44Val) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
I44V (p.Ile44Val) variant details
- p.Ile44Val
- rs750233555
- ClinGen CA233626868
- ClinVar RCV001314801
- TOPMed rs750233555
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.66
- CADD 21.80
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)