E55R (p.Glu55Arg) variant of TNNC1 (P63316)
E55R (p.Glu55Arg) in TNNC1 (P63316) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data, published literature, and structural context.
E55R (p.Glu55Arg) variant details
- p.Glu55Arg
- rs781712996
- ClinGen CA2438578
- ClinVar RCV003070860
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)