Y109* (p.Tyr109Ter) variant of MYH6 (Myosin-6)
Y109* (p.Tyr109Ter) in MYH6 (Myosin-6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Y109* (p.Tyr109Ter) variant details
- p.Tyr109Ter
- cosmic curated COSV62452
- ESP rs147148031
- ExAC rs147148031
- TOPMed rs147148031
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 24.90
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available