R185W (p.Arg185Trp) variant of ACTC1 (Actin, alpha cardiac muscle 1)
R185W (p.Arg185Trp) 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 Inborn genetic diseases; Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R185W (p.Arg185Trp) variant details
- p.Arg185Trp
- rs397517065
- ClinGen CA019824
- NCI-TCGA Cosmic COSV5176
- ClinVar RCV000038333
- Likely pathogenic
- Inborn genetic diseases; Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.94
- MetaLR 0.94
- MetaSVM 1.05
- CADD 28.50
- SIFT 0.00
- ClinVar: Likely pathogenic (Inborn genetic diseases; Primary dilated cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)