A173T (p.Ala173Thr) variant of FLNB (Filamin-B)
A173T (p.Ala173Thr) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atelosteogenesis type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
A173T (p.Ala173Thr) variant details
- p.Ala173Thr
- rs587777259
- ClinGen CA269449
- NCI-TCGA Cosmic COSV9991
- cosmic curated COSV99914
- Pathogenic
- Atelosteogenesis type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 0.89
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Atelosteogenesis type I)
- EBI: Pathogenic (in AO1)
- UniProt: Pathogenic (in AO1)
- Structural context available
- Cited in: Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing. (PMID 24624349)
- Cited in: FLNB-Related Disorders. (PMID 20301736)