A3S (p.Ala3Ser) variant of IL6R (P08887)
A3S (p.Ala3Ser) 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 0.27 / 1. The record also includes population frequency data and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- rs894754581
- ClinGen CA342595309
- ClinVar RCV002690479
- ClinVar RCV004758237
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.08
- CADD 22.50
- PolyPhen-2 0.74
- SIFT 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00023)
- Structural context available