S18Y (p.Ser18Tyr) variant of MAP2K1 (Q02750)
S18Y (p.Ser18Tyr) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S18Y (p.Ser18Tyr) variant details
- p.Ser18Tyr
- gnomAD 15-66387400-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.50
- MetaLR 0.79
- MetaSVM 0.51
- CADD 23.70
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available