D16T (p.Asp16Thr) variant of MAP2K1 (Q02750)
D16T (p.Asp16Thr) in MAP2K1 (Q02750) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D16T (p.Asp16Thr) variant details
- p.Asp16Thr
- rs1566991692
- gnomAD 15-66387387-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 28.30
- Population evidence available
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score 0.408
- Literature evidence available