E116K (p.Glu116Lys) variant of FLG (Filaggrin)
E116K (p.Glu116Lys) in FLG (Filaggrin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
E116K (p.Glu116Lys) variant details
- p.Glu116Lys
- rs751519390
- NCI-TCGA Cosmic COSV6423
- ExAC rs751519390
- TOPMed rs751519390
- Variant assessed as somatic; moderate impact.
- Missense
- AlphaMissense 0.20
- MetaLR 0.00
- MetaSVM -0.85
- PolyPhen-2 0.90
- SIFT 0.04
- MutPred 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available