L2M (p.Leu2Met) variant of IL6R (P08887)
L2M (p.Leu2Met) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L2M (p.Leu2Met) variant details
- p.Leu2Met
- TOPMed rs962968046
- gnomAD rs962968046
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.06
- CADD 23.60
- PolyPhen-2 0.92
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available