E101K (p.Glu101Lys) variant of ACTC1 (Actin, alpha cardiac muscle 1)
E101K (p.Glu101Lys) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E101K (p.Glu101Lys) variant details
- p.Glu101Lys
- rs193922680
- ClinGen CA019743
- NCI-TCGA Cosmic COSV5175
- ClinVar RCV000019996
- Pathogenic
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.87
- MetaLR 0.92
- MetaSVM 1.02
- CADD 29.60
- PolyPhen-2 0.85
- SIFT 0.06
- ClinVar: Pathogenic (Hypertrophic cardiomyopathy)
- EBI: Pathogenic (in CMH11)
- UniProt: Pathogenic (in CMH11)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. (PMID 10966831)
- Cited in: Gene mutations in apical hypertrophic cardiomyopathy. (PMID 16267253)