T8A (p.Thr8Ala) variant of ACTC1 (Actin, alpha cardiac muscle 1)
T8A (p.Thr8Ala) 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 Cardiovascular phenotype; Atrial septal defect 5; Dilated cardiomyopathy 1R. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
T8A (p.Thr8Ala) variant details
- p.Thr8Ala
- rs730880390
- ClinGen CA019702
- ClinVar RCV000157775
- ClinVar RCV001319568
- Uncertain significance
- Cardiovascular phenotype; Atrial septal defect 5; Dilated cardiomyopathy 1R
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- AlphaMissense 0.14
- MetaLR 0.79
- MetaSVM 0.56
- PolyPhen-2 0.13
- EVE 0.08
- MutPred 0.30
- ClinVar: Uncertain significance (Cardiovascular phenotype; Atrial septal defect 5; Dilated cardio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)