F161C (p.Phe161Cys) variant of FLNB (Filamin-B)
F161C (p.Phe161Cys) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Connective tissue disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
F161C (p.Phe161Cys) variant details
- p.Phe161Cys
- rs80356506
- ClinGen CA130016
- ClinVar RCV000030660
- ClinVar RCV002276538
- Likely pathogenic
- Connective tissue disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Connective tissue disorder; not provided)
- 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)