A19S (p.Ala19Ser) variant of MYL3 (Myosin light chain 3)
A19S (p.Ala19Ser) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- rs141778691
- ClinGen CA044903
- ClinVar RCV002344896
- ClinVar RCV003533184
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.26
- CADD 16.40
- PolyPhen-2 0.03
- SIFT 0.73
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)