I9V (p.Ile9Val) variant of MAP2K1 (Q02750)
I9V (p.Ile9Val) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I9V (p.Ile9Val) variant details
- p.Ile9Val
- gnomAD 15-66387372-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.34
- MetaLR 0.61
- MetaSVM 0.07
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.28
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.0261
- Literature evidence available