P26L (p.Pro26Leu) variant of IL6R (P08887)
P26L (p.Pro26Leu) 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 0.12 / 1. The record also includes population frequency data and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs1392150709
- ClinGen CA342595705
- ClinVar RCV002017911
- gnomAD rs1392150709
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.02
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00046)
- Structural context available