E65* (p.Glu65Ter) variant of MYL2 (P10916)
E65* (p.Glu65Ter) in MYL2 (P10916) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
E65* (p.Glu65Ter) variant details
- p.Glu65Ter
- rs397516398
- ClinGen CA386698819
- ClinVar RCV001799463
- Ensembl rs397516398
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.741
- AlphaMissense 0.83
- MetaLR 0.73
- MetaSVM 0.59
- PolyPhen-2 0.99
- SIFT 0.14
- MutPred 0.50
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)