F2578L (p.Phe2578Leu) variant of FLNA (Filamin-A)
F2578L (p.Phe2578Leu) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Frontometaphyseal dysplasia 1. The record also includes published literature and structural context.
F2578L (p.Phe2578Leu) variant details
- p.Phe2578Leu
- rs2522712579
- ClinGen CA415179415
- ClinVar RCV003512235
- Likely pathogenic
- Frontometaphyseal dysplasia 1
- Missense
- ClinVar: Likely pathogenic (Frontometaphyseal dysplasia 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)