F12L (p.Phe12Leu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
F12L (p.Phe12Leu) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
F12L (p.Phe12Leu) variant details
- p.Phe12Leu
- rs2495786749
- ClinGen CA380342061
- ClinVar RCV002966724
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.70
- ESM-1b 0.00
- AlphaMissense 0.95
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available