G17A (p.Gly17Ala) variant of IL6R (P08887)
G17A (p.Gly17Ala) 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 0.25 / 1. The record also includes population frequency data and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- rs1438000486
- ClinGen CA342595536
- ClinVar RCV002026925
- TOPMed rs1438000486
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.02
- CADD 9.31
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00052)
- Structural context available