R256C (p.Arg256Cys) variant of ACTC1 (Actin, alpha cardiac muscle 1)
R256C (p.Arg256Cys) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.92 / 1. The record also includes population frequency data and structural context.
R256C (p.Arg256Cys) variant details
- p.Arg256Cys
- rs1179943060
- NCI-TCGA Cosmic COSV5175
- gnomAD rs1179943060
- Likely pathogenic
- Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.96
- MetaLR 0.97
- MetaSVM 1.08
- CADD 33.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available