G1834R (p.Gly1834Arg) variant of FLNB (Filamin-B)
G1834R (p.Gly1834Arg) 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 0.89 / 1. The record also includes published literature and structural context.
G1834R (p.Gly1834Arg) variant details
- p.Gly1834Arg
- rs80356516
- ClinGen CA341859
- ClinVar RCV000020455
- UniProt VAR 033087
- Pathogenic
- Larsen syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.98
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Larsen syndrome)
- 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)