S18P (p.Ser18Pro) variant of MAP2K1 (Q02750)
S18P (p.Ser18Pro) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S18P (p.Ser18Pro) variant details
- p.Ser18Pro
- gnomAD 15-66387399-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.57
- MetaLR 0.68
- MetaSVM 0.05
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available