F66L (p.Phe66Leu) variant of ABCC9 (O60706)
F66L (p.Phe66Leu) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
F66L (p.Phe66Leu) variant details
- p.Phe66Leu
- rs1384960260
- ClinGen CA384131693
- ClinVar RCV002633358
- TOPMed rs1384960260
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.78
- CADD 21.20
- PolyPhen-2 0.12
- SIFT 0.20
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)