T7S (p.Thr7Ser) variant of ACTC1 (Actin, alpha cardiac muscle 1)
T7S (p.Thr7Ser) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Atrial septal defect 5; Dilated cardiomyopathy 1R. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T7S (p.Thr7Ser) variant details
- p.Thr7Ser
- rs746748461
- ClinGen CA041208
- ClinVar RCV001177947
- ClinVar RCV003769916
- Uncertain significance
- Cardiomyopathy; Atrial septal defect 5; Dilated cardiomyopathy 1R
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.46
- MetaLR 0.56
- MetaSVM -0.06
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Cardiomyopathy; Atrial septal defect 5; Dilated cardiomyopathy 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)