D16D (p.Asp16Asp) variant of MAP2K1 (Q02750)
D16D (p.Asp16Asp) in MAP2K1 (Q02750) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D16D (p.Asp16Asp) variant details
- p.Asp16Asp
- rs1330053912
- gnomAD 15-66387395-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 13.30
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score 0.408
- Literature evidence available