Y33* (p.Tyr33Ter) variant of MEF2C (Q06413)
Y33* (p.Tyr33Ter) in MEF2C (Q06413) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Y33* (p.Tyr33Ter) variant details
- p.Tyr33Ter
- cosmic curated COSV10650
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 28.50
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available