G361D (p.Gly361Asp) variant of FLNB (Filamin-B)
G361D (p.Gly361Asp) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Larsen syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
G361D (p.Gly361Asp) variant details
- p.Gly361Asp
- rs794727854
- ClinGen CA353335772
- ClinVar RCV000497355
- ClinVar RCV002468583
- Pathogenic
- not provided; Larsen syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.97
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (not provided; Larsen syndrome)
- EBI: Pathogenic (in LRS)
- UniProt: Pathogenic (in LRS)
- Structural context available
- Cited in: FLNB-Related Disorders. (PMID 20301736)