R42W (p.Arg42Trp) variant of FLG (Filaggrin)
R42W (p.Arg42Trp) in FLG (Filaggrin) is a missense change. Clinical records from ClinVar, EBI, 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.
R42W (p.Arg42Trp) variant details
- p.Arg42Trp
- rs138819199
- NCI-TCGA Cosmic COSV6423
- ESP rs138819199
- ExAC rs138819199
- Uncertain significance
- Inborn genetic diseases
- Missense
- AlphaMissense 0.26
- MetaLR 0.03
- MetaSVM -1.05
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available