E111K (p.Glu111Lys) variant of FLG (Filaggrin)
E111K (p.Glu111Lys) 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.
E111K (p.Glu111Lys) variant details
- p.Glu111Lys
- rs1240146425
- NCI-TCGA Cosmic COSV1009
- NCI-TCGA Cosmic COSV6424
- TOPMed rs1240146425
- Variant assessed as somatic; moderate impact.
- Missense
- AlphaMissense 0.15
- MetaLR 0.00
- MetaSVM -0.90
- PolyPhen-2 0.90
- SIFT 0.11
- MutPred 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available