G50S (p.Gly50Ser) variant of ACTC1 (Actin, alpha cardiac muscle 1)
G50S (p.Gly50Ser) 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 0.78 / 1. The record also includes published literature and structural context.
G50S (p.Gly50Ser) variant details
- p.Gly50Ser
- rs1555418921
- ClinGen CA391632221
- ClinVar RCV003767820
- ClinVar RCV005400735
- Conflicting interpretations
- Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 0.85
- MetaLR 0.87
- MetaSVM 0.91
- PolyPhen-2 0.95
- EVE 0.36
- MutPred 0.82
- ClinVar: Conflicting classifications of pathogenicity (Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)