K63R (p.Lys63Arg) variant of ACTC1 (Actin, alpha cardiac muscle 1)
K63R (p.Lys63Arg) 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; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
K63R (p.Lys63Arg) variant details
- p.Lys63Arg
- rs794727502
- ClinGen CA019679
- ClinVar RCV000177225
- ClinVar RCV000530584
- Uncertain significance
- Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- AlphaMissense 0.51
- MetaLR 0.86
- MetaSVM 0.84
- PolyPhen-2 0.18
- EVE 0.21
- MutPred 0.68
- ClinVar: Uncertain significance (Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic)
- 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)