K55E (p.Lys55Glu) variant of IL6 (Interleukin-6)
K55E (p.Lys55Glu) in IL6 (Interleukin-6) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
K55E (p.Lys55Glu) variant details
- p.Lys55Glu
- 1000Genomes rs202138427
- ExAC rs202138427
- TOPMed rs202138427
- gnomAD rs202138427
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.12
- MetaLR 0.01
- MetaSVM -1.03
- CADD 4.97
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available