I256V (p.Ile256Val) variant of MYH11 (Myosin-11)
I256V (p.Ile256Val) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aortic aneurysm, familial thoracic 4. The record also includes published literature and structural context.
I256V (p.Ile256Val) variant details
- p.Ile256Val
- rs2506578179
- ClinGen CA394870061
- ClinVar RCV003154856
- Likely pathogenic
- Aortic aneurysm, familial thoracic 4
- Missense
- ClinVar: Likely pathogenic (Aortic aneurysm, familial thoracic 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)