L171R (p.Leu171Arg) variant of FLNB (Filamin-B)
L171R (p.Leu171Arg) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Boomerang dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
L171R (p.Leu171Arg) variant details
- p.Leu171Arg
- rs80356494
- ClinGen CA253859
- ClinVar RCV000006774
- UniProt VAR 033071
- Pathogenic
- Boomerang dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (Boomerang dysplasia)
- EBI: Pathogenic (in BOOMD)
- UniProt: Pathogenic (in BOOMD)
- Structural context available
- Cited in: Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. (PMID 14991055)
- Cited in: Mutations in FLNB cause boomerang dysplasia. (PMID 15994868)