P114R (p.Pro114Arg) variant of ACTA2 (Actin, aortic smooth muscle)
P114R (p.Pro114Arg) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
P114R (p.Pro114Arg) variant details
- p.Pro114Arg
- rs2133261286
- ClinGen CA2573053375
- ClinVar RCV001795828
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)