T36A (p.Thr36Ala) variant of IL6R (P08887)
T36A (p.Thr36Ala) in IL6R (P08887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
T36A (p.Thr36Ala) variant details
- p.Thr36Ala
- rs766474176
- ClinGen CA1128921
- ClinVar RCV002041243
- ExAC rs766474176
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.10
- CADD 8.57
- PolyPhen-2 0.04
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available