A2S (p.Ala2Ser) variant of MYL3 (Myosin light chain 3)
A2S (p.Ala2Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- rs148310342
- ClinGen CA352499986
- ClinVar RCV001189461
- ESP rs148310342
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.15
- MetaLR 0.54
- MetaSVM -0.10
- PolyPhen-2 0.56
- SIFT 0.02
- MutPred 0.19
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)