G1691S (p.Gly1691Ser) variant of FLNB (Filamin-B)
G1691S (p.Gly1691Ser) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Larsen syndrome; Boomerang dysplasia; Atelosteogenesis type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
G1691S (p.Gly1691Ser) variant details
- p.Gly1691Ser
- rs80356503
- ClinGen CA130019
- cosmic curated COSV55870
- ClinVar RCV000030663
- Pathogenic
- Larsen syndrome; Boomerang dysplasia; Atelosteogenesis type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.90
- MetaLR 0.78
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Larsen syndrome; Boomerang dysplasia; Atelosteogenesis type I)
- EBI: Pathogenic (in LRS)
- UniProt: Pathogenic (in LRS)
- Structural context available
- Cited in: Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. (PMID 14991055)
- Cited in: A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. (PMID 16801345)