D16V (p.Asp16Val) variant of MAP2K1 (Q02750)
D16V (p.Asp16Val) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D16V (p.Asp16Val) variant details
- p.Asp16Val
- gnomAD rs1455356412
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.44
- MetaLR 0.55
- MetaSVM -0.15
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score 0.408