A3G (p.Ala3Gly) variant of IL6R (P08887)
A3G (p.Ala3Gly) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- gnomAD 1-154405637-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.09
- CADD 23.10
- PolyPhen-2 0.84
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available
- Literature evidence available