M202V (p.Met202Val) variant of FLNB (Filamin-B)
M202V (p.Met202Val) 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; Atelosteogenesis type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
M202V (p.Met202Val) variant details
- p.Met202Val
- rs121908895
- ClinGen CA253857
- ClinVar RCV000006771
- ClinVar RCV000006772
- Pathogenic
- Atelosteogenesis type I; Atelosteogenesis type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.93
- MetaLR 0.91
- MetaSVM 1.05
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic (Atelosteogenesis type I; Atelosteogenesis type III)
- EBI: Pathogenic (in AO1 and AO3)
- UniProt: Pathogenic (in AO1 and AO3)
- Structural context available
- Cited in: Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. (PMID 14991055)
- Cited in: FLNB-Related Disorders. (PMID 20301736)