E22* (p.Glu22Ter) variant of MYL2 (P10916)
E22* (p.Glu22Ter) in MYL2 (P10916) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMH10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
E22* (p.Glu22Ter) variant details
- p.Glu22Ter
- rs104894368
- ClinGen CA010523
- ClinVar RCV000158915
- ClinVar RCV002362844
- Pathogenic
- in CMH10
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.856
- CADD 37.00
- EBI: Pathogenic (in CMH10)
- UniProt: Pathogenic (in CMH10)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available