M46V (p.Met46Val) variant of ACTA2 (Actin, aortic smooth muscle)
M46V (p.Met46Val) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aortic aneurysm, familial thoracic 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
M46V (p.Met46Val) variant details
- p.Met46Val
- rs2133270221
- ClinGen CA377513554
- ClinVar RCV001923663
- Ensembl rs2133270221
- Likely pathogenic
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.89
- CADD 24.60
- PolyPhen-2 0.27
- SIFT 0.02
- ClinVar: Likely pathogenic (Aortic aneurysm, familial thoracic 6)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)