P104S (p.Pro104Ser) variant of ACTC1 (Actin, alpha cardiac muscle 1)
P104S (p.Pro104Ser) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
P104S (p.Pro104Ser) variant details
- p.Pro104Ser
- rs397517059
- ClinGen CA019747
- ClinVar RCV000038325
- ClinVar RCV000484679
- Conflicting interpretations
- Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 0.61
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.98
- EVE 0.33
- MutPred 0.77
- ClinVar: Conflicting classifications of pathogenicity (Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)