Y115* (p.Tyr115Ter) variant of MYH6 (Myosin-6)
Y115* (p.Tyr115Ter) 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.
Y115* (p.Tyr115Ter) variant details
- p.Tyr115Ter
- ExAC rs770221652
- TOPMed rs770221652
- gnomAD rs770221652
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 25.70
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available