M1V (p.Met1Val) variant of ACTC1 (Actin, alpha cardiac muscle 1)
M1V (p.Met1Val) 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 Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1891784379
- ClinGen CA391633548
- ClinVar RCV003802232
- Uncertain significance
- Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- MetaLR 0.70
- MetaSVM 0.30
- PolyPhen-2 0.01
- MutPred 0.97
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atria)
- 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)