F245L (p.Phe245Leu) variant of MYH6 (Myosin-6)
F245L (p.Phe245Leu) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary familial dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
F245L (p.Phe245Leu) variant details
- p.Phe245Leu
- rs1263987728
- ClinGen CA389028862
- ClinVar RCV000624469
- TOPMed rs1263987728
- Pathogenic
- Primary familial dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.75
- CADD 22.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic (Primary familial dilated cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)