F36L (p.Phe36Leu) variant of ABCC9 (O60706)
F36L (p.Phe36Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
F36L (p.Phe36Leu) variant details
- p.Phe36Leu
- rs1460302850
- ClinGen CA384133513
- ClinVar RCV002224476
- ClinVar RCV005095762
- Uncertain significance
- Dilated cardiomyopathy 1O; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.83
- CADD 24.00
- PolyPhen-2 0.92
- SIFT 0.43
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O; not provided)
- 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)