G1691D (p.Gly1691Asp) variant of FLNB (Filamin-B)
G1691D (p.Gly1691Asp) 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 not provided; Larsen syndrome; Abnormality of the skeletal system. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
G1691D (p.Gly1691Asp) variant details
- p.Gly1691Asp
- rs1553704446
- ClinGen CA353353187
- ClinVar RCV000625945
- ClinVar RCV001814201
- Pathogenic/Likely pathogenic
- not provided; Larsen syndrome; Abnormality of the skeletal system
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- AlphaMissense 1.00
- MetaLR 0.73
- MetaSVM 0.47
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (not provided; Larsen syndrome; Abnormality of the skeletal syste)
- EBI: Pathogenic (in LRS)
- UniProt: Pathogenic (in LRS)
- Structural context available
- Cited in: FLNB-Related Disorders. (PMID 20301736)