A14D (p.Ala14Asp) variant of MAP2K1 (Q02750)
A14D (p.Ala14Asp) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- gnomAD 15-66387388-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.32
- MetaLR 0.61
- MetaSVM -0.04
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available