P72L (p.Pro72Leu) variant of ACTA2 (Actin, aortic smooth muscle)
P72L (p.Pro72Leu) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial thoracic aortic aneurysm and aortic dissection; not provided; Aortic an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P72L (p.Pro72Leu) variant details
- p.Pro72Leu
- rs1060500134
- ClinGen CA16613266
- ClinVar RCV000459592
- ClinVar RCV000788730
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection; not provided; Aortic an
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.83
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)