I36T (p.Ile36Thr) variant of ACTA2 (Actin, aortic smooth muscle)
I36T (p.Ile36Thr) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
I36T (p.Ile36Thr) variant details
- p.Ile36Thr
- rs772919504
- ClinGen CA026722
- NCI-TCGA Cosmic COSV5651
- ClinVar RCV000788973
- Uncertain significance
- Aortic aneurysm, familial thoracic 6; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.89
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6; not specified; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)