Q115H (p.Gln115His) variant of FLG (Filaggrin)
Q115H (p.Gln115His) 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, population frequency data, and published literature.
Q115H (p.Gln115His) variant details
- p.Gln115His
- rs754930940
- ExAC rs754930940
- TOPMed rs754930940
- gnomAD rs754930940
- Uncertain significance
- Inborn genetic diseases
- Missense
- AlphaMissense 0.33
- MetaLR 0.00
- MetaSVM -0.98
- PolyPhen-2 0.09
- SIFT 0.01
- MutPred 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)