V59E (p.Val59Glu) variant of MYL2 (P10916)
V59E (p.Val59Glu) in MYL2 (P10916) 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 0.41 / 1. The record also includes published literature and structural context.
V59E (p.Val59Glu) variant details
- p.Val59Glu
- rs2071674771
- ClinGen CA386698858
- ClinVar RCV001185348
- Ensembl rs2071674771
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- AlphaMissense 0.53
- MetaLR 0.20
- MetaSVM -0.47
- PolyPhen-2 0.86
- SIFT 0.01
- MutPred 0.57
- ClinVar: Uncertain significance (Cardiomyopathy)
- 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)