G580V (p.Gly580Val) variant of FLNB (Filamin-B)
G580V (p.Gly580Val) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Atelosteogenesis type III. The record also includes published literature and structural context.
G580V (p.Gly580Val) variant details
- p.Gly580Val
- rs2097257677
- ClinGen CA353339507
- ClinVar RCV001169838
- Ensembl rs2097257677
- Likely pathogenic
- Atelosteogenesis type III
- Missense
- ClinVar: Likely pathogenic (Atelosteogenesis type III)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FLNB-Related Disorders. (PMID 20301736)