A14S (p.Ala14Ser) variant of MAP2K1 (Q02750)
A14S (p.Ala14Ser) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD 15-66387387-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.34
- MetaLR 0.47
- MetaSVM -0.55
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available