A3T (p.Ala3Thr) variant of IL6R (P08887)
A3T (p.Ala3Thr) in IL6R (P08887) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- TOPMed rs894754581
- gnomAD rs894754581
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.06
- CADD 21.40
- PolyPhen-2 0.44
- SIFT 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available