F103C (p.Phe103Cys) variant of MYH6 (Myosin-6)
F103C (p.Phe103Cys) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
F103C (p.Phe103Cys) variant details
- p.Phe103Cys
- rs376330318
- ClinGen CA257799164
- ClinVar RCV003515859
- ESP rs376330318
- Uncertain significance
- Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.48
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)