F21S (p.Phe21Ser) variant of MYL2 (P10916)
F21S (p.Phe21Ser) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 10. The record also includes published literature and structural context.
F21S (p.Phe21Ser) variant details
- p.Phe21Ser
- rs2499814915
- ClinGen CA386700259
- ClinVar RCV003630852
- ClinVar RCV005675275
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 10
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)