K20E (p.Lys20Glu) variant of FLG (Filaggrin)
K20E (p.Lys20Glu) in FLG (Filaggrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
K20E (p.Lys20Glu) variant details
- p.Lys20Glu
- rs751162672
- ExAC rs751162672
- gnomAD rs751162672
- Uncertain significance
- Inborn genetic diseases
- Missense
- AlphaMissense 0.33
- MetaLR 0.01
- MetaSVM -0.93
- PolyPhen-2 0.14
- SIFT 0.01
- MutPred 0.53
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available