G50R (p.Gly50Arg) variant of ACTA2 (Actin, aortic smooth muscle)
G50R (p.Gly50Arg) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G50R (p.Gly50Arg) variant details
- p.Gly50Arg
- rs2494571043
- ClinGen CA377513529
- ClinVar RCV003633430
- Uncertain significance
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.91
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-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)