F252C (p.Phe252Cys) variant of MYH7 (Myosin-7)
F252C (p.Phe252Cys) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypertrophic cardiomyopathy 1; Primary familial hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
F252C (p.Phe252Cys) variant details
- p.Phe252Cys
- rs727505202
- ClinGen CA277662
- ClinVar RCV000201463
- ClinVar RCV006255163
- Likely pathogenic
- Hypertrophic cardiomyopathy 1; Primary familial hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.03
- PolyPhen-2 0.90
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Hypertrophic cardiomyopathy 1; Primary familial hypertrophic car)
- EBI: Likely pathogenic (in LVNC5)
- UniProt: Likely pathogenic (in LVNC5)
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)