N94S (p.Asn94Ser) variant of ACTC1 (Actin, alpha cardiac muscle 1)
N94S (p.Asn94Ser) 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 Cardiovascular phenotype; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
N94S (p.Asn94Ser) variant details
- p.Asn94Ser
- rs767734253
- ClinGen CA041504
- ClinVar RCV000201495
- ClinVar RCV003114362
- Conflicting interpretations
- Cardiovascular phenotype; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.75
- MetaLR 0.90
- MetaSVM 0.93
- CADD 26.90
- PolyPhen-2 0.55
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Dilated cardiomyopathy 1R; Hypertrophi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)