F99L (p.Phe99Leu) variant of FLNA (Filamin-A)
F99L (p.Phe99Leu) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Melnick-Needles syndrome; Frontometaphyseal dysplasia. The record also includes published literature and structural context.
F99L (p.Phe99Leu) variant details
- p.Phe99Leu
- rs2148121887
- ClinVar RCV004592208
- ClinVar RCV006382261
- Uncertain significance
- not provided; Melnick-Needles syndrome; Frontometaphyseal dysplasia
- Missense
- ClinVar: Uncertain significance (not provided; Melnick-Needles syndrome; Frontometaphyseal dyspla)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)