P16L (p.Pro16Leu) variant of IL6R (P08887)
P16L (p.Pro16Leu) 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 0.06 / 1. The record also includes population frequency data and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- rs2149196136
- ClinGen CA342595522
- ClinVar RCV002011772
- Ensembl rs2149196136
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0628
- REVEL 0.02
- CADD 5.53
- PolyPhen-2 0.00
- SIFT 0.84
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available