V54L (p.Val54Leu) variant of FLG (Filaggrin)
V54L (p.Val54Leu) in FLG (Filaggrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
V54L (p.Val54Leu) variant details
- p.Val54Leu
- rs1225860917
- ClinGen CA342109432
- ClinVar RCV003304701
- TOPMed rs1225860917
- Uncertain significance
- Missense
- AlphaMissense 0.87
- MetaLR 0.01
- MetaSVM -1.00
- PolyPhen-2 0.14
- SIFT 0.01
- MutPred 0.43
- 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)