G1524S (p.Gly1524Ser) variant of FLNB (Filamin-B)
G1524S (p.Gly1524Ser) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Larsen syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
G1524S (p.Gly1524Ser) variant details
- p.Gly1524Ser
- rs2107220190
- ClinGen CA353351686
- ClinVar RCV002238706
- Ensembl rs2107220190
- Likely pathogenic
- Larsen syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.88
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.68
- ClinVar: Likely pathogenic (Larsen syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FLNB-Related Disorders. (PMID 20301736)