M1V (p.Met1Val) variant of MYLK (Q15746)
M1V (p.Met1Val) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 7; not provided. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs776588381
- ClinGen CA068288
- ClinVar RCV001058087
- ClinVar RCV002223977
- Uncertain significance
- Aortic aneurysm, familial thoracic 7; not provided
- Missense
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)