H42Y (p.His42Tyr) variant of ACTC1 (Actin, alpha cardiac muscle 1)
H42Y (p.His42Tyr) 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 Atrial septal defect 5; Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
H42Y (p.His42Tyr) variant details
- p.His42Tyr
- rs2140433161
- ClinGen CA391633022
- ClinVar RCV001946513
- Ensembl rs2140433161
- Uncertain significance
- Atrial septal defect 5; Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 0.73
- MetaLR 0.69
- MetaSVM 0.29
- PolyPhen-2 0.14
- EVE 0.20
- MutPred 0.76
- ClinVar: Uncertain significance (Atrial septal defect 5; Hypertrophic cardiomyopathy 11; Dilated)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)