P104S (p.Pro104Ser) variant of ACTA2 (Actin, aortic smooth muscle)
P104S (p.Pro104Ser) 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; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P104S (p.Pro104Ser) variant details
- p.Pro104Ser
- rs1156640249
- ClinGen CA377512898
- ClinVar RCV001805298
- ClinVar RCV003633600
- Uncertain significance
- Aortic aneurysm, familial thoracic 6; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.86
- CADD 26.50
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6; Familial thoracic aortic a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)