A19T (p.Ala19Thr) variant of IL6R (P08887)
A19T (p.Ala19Thr) in IL6R (P08887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- rs758469371
- ClinGen CA1128902
- ClinVar RCV001882942
- ClinVar RCV004927734
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.04
- CADD 10.40
- PolyPhen-2 0.28
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available