S24I (p.Ser24Ile) variant of MAP2K1 (Q02750)
S24I (p.Ser24Ile) 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.
S24I (p.Ser24Ile) variant details
- p.Ser24Ile
- gnomAD 15-66387418-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.34
- MetaLR 0.49
- MetaSVM -0.38
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.126
- Literature evidence available