V37M (p.Val37Met) variant of ACTC1 (Actin, alpha cardiac muscle 1)
V37M (p.Val37Met) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar 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 0.89 / 1. The record also includes population frequency data and structural context.
V37M (p.Val37Met) variant details
- p.Val37Met
- rs1407311947
- NCI-TCGA Cosmic COSV5176
- gnomAD rs1407311947
- Uncertain significance
- Atrial septal defect 5; Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.92
- MetaLR 0.93
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (Atrial septal defect 5; Hypertrophic cardiomyopathy 11; Dilated)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available