G1586R (p.Gly1586Arg) variant of FLNB (Filamin-B)
G1586R (p.Gly1586Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G1586R (p.Gly1586Arg) variant details
- p.Gly1586Arg
- rs80356513
- ClinGen CA130017
- ClinVar RCV000030661
- UniProt VAR 033083
- Pathogenic
- Larsen syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Larsen syndrome)
- 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)