G168S (p.Gly168Ser) variant of FLNB (Filamin-B)
G168S (p.Gly168Ser) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FLNB-related disorder; Inborn genetic diseases; Spondylocarpotarsal synostosis s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G168S (p.Gly168Ser) variant details
- p.Gly168Ser
- rs80356504
- ClinGen CA343270
- ClinVar RCV001596945
- ClinVar RCV003152668
- Pathogenic/Likely pathogenic
- FLNB-related disorder; Inborn genetic diseases; Spondylocarpotarsal synostosis s
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic/Likely pathogenic (FLNB-related disorder; Inborn genetic diseases; Spondylocarpotar)
- EBI: Pathogenic (in LRS)
- UniProt: Pathogenic (in LRS)
- Structural context available
- Cited in: A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. (PMID 16801345)
- Cited in: FLNB-Related Disorders. (PMID 20301736)