W66* (p.Trp66Ter) variant of MYLK (Q15746)
W66* (p.Trp66Ter) in MYLK (Q15746) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
W66* (p.Trp66Ter) variant details
- p.Trp66Ter
- rs2474744149
- ClinGen CA354245279
- ClinVar RCV002730849
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)