S54F (p.Ser54Phe) variant of ACTC1 (Actin, alpha cardiac muscle 1)
S54F (p.Ser54Phe) 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 Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
S54F (p.Ser54Phe) variant details
- p.Ser54Phe
- rs730880391
- ClinGen CA019669
- ClinVar RCV000157778
- ClinVar RCV005222787
- Uncertain significance
- Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- AlphaMissense 0.83
- MetaLR 0.81
- MetaSVM 0.77
- PolyPhen-2 0.93
- EVE 0.15
- MutPred 0.48
- ClinVar: Uncertain significance (Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic)
- 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)