S42N (p.Ser42Asn) variant of IL6R (P08887)
S42N (p.Ser42Asn) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
S42N (p.Ser42Asn) variant details
- p.Ser42Asn
- ExAC rs763907785
- TOPMed rs763907785
- gnomAD rs763907785
- Missense
- Variant Prioritization Score for Impact Estimate 0.0398
- REVEL 0.01
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.92
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available