E6D (p.Glu6Asp) variant of ACTC1 (Actin, alpha cardiac muscle 1)
E6D (p.Glu6Asp) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E6D (p.Glu6Asp) variant details
- p.Glu6Asp
- rs1891783715
- ClinGen CA391633458
- NCI-TCGA Cosmic COSV9929
- ClinVar RCV002408240
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.47
- MetaLR 0.81
- MetaSVM 0.56
- CADD 19.20
- PolyPhen-2 0.14
- SIFT 0.27
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available