E6K (p.Glu6Lys) variant of FLG (Filaggrin)
E6K (p.Glu6Lys) 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.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- rs865914246
- NCI-TCGA Cosmic COSV6424
- Ensembl rs865914246
- Variant assessed as somatic; moderate impact.
- Missense
- AlphaMissense 0.56
- MetaLR 0.01
- MetaSVM -0.98
- PolyPhen-2 0.95
- SIFT 0.07
- MutPred 0.48
- UniProt: Variant assessed as somatic; moderate impact.