A22V (p.Ala22Val) variant of MYL3 (Myosin light chain 3)
A22V (p.Ala22Val) 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 0.49 / 1. The record also includes published literature and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs2106914529
- ClinGen CA352499709
- ClinVar RCV001804520
- ClinVar RCV004009093
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- AlphaMissense 0.09
- MetaLR 0.54
- MetaSVM -0.35
- PolyPhen-2 0.72
- SIFT 0.09
- MutPred 0.20
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)