L38V (p.Leu38Val) variant of IL6R (P08887)
L38V (p.Leu38Val) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
L38V (p.Leu38Val) variant details
- p.Leu38Val
- ExAC rs752579637
- TOPMed rs752579637
- gnomAD rs752579637
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.08
- CADD 1.07
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available