S85F (p.Ser85Phe) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S85F (p.Ser85Phe) 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 0.56 / 1. The record also includes population frequency data and structural context.
S85F (p.Ser85Phe) variant details
- p.Ser85Phe
- gnomAD rs1280347352
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.48
- CADD 26.60
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available