L33S (p.Leu33Ser) variant of MAP2K1 (Q02750)
L33S (p.Leu33Ser) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
L33S (p.Leu33Ser) variant details
- p.Leu33Ser
- TOPMed rs1398951177
- gnomAD rs1398951177
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.86
- MetaLR 0.87
- MetaSVM 0.94
- CADD 25.60
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available