P39A (p.Pro39Ala) variant of IL6R (P08887)
P39A (p.Pro39Ala) 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.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- gnomAD rs1274153124
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.16
- CADD 20.40
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available