V20I (p.Val20Ile) variant of MAP2K1 (Q02750)
V20I (p.Val20Ile) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- gnomAD 15-66387405-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.30
- MetaLR 0.51
- MetaSVM -0.24
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.97
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score -0.678
- Literature evidence available