K52T (p.Lys52Thr) variant of ACTC1 (Actin, alpha cardiac muscle 1)
K52T (p.Lys52Thr) 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 Dilated cardiomyopathy 1R; Atrial septal defect 5; Hypertrophic cardiomyopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
K52T (p.Lys52Thr) variant details
- p.Lys52Thr
- rs2140432240
- ClinGen CA391632191
- ClinVar RCV001961500
- Ensembl rs2140432240
- Likely pathogenic
- Dilated cardiomyopathy 1R; Atrial septal defect 5; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.03
- PolyPhen-2 0.45
- EVE 0.55
- MutPred 0.68
- ClinVar: Likely pathogenic (Dilated cardiomyopathy 1R; Atrial septal defect 5; Hypertrophic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)