D16Y (p.Asp16Tyr) variant of MAP2K1 (Q02750)
D16Y (p.Asp16Tyr) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D16Y (p.Asp16Tyr) variant details
- p.Asp16Tyr
- gnomAD 15-66387393-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.60
- MetaLR 0.66
- MetaSVM 0.23
- CADD 27.40
- PolyPhen-2 0.55
- SIFT 0.14
- Population evidence available
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score 0.408
- Literature evidence available