A1643V (p.Ala1643Val) variant of FLNB (Filamin-B)
A1643V (p.Ala1643Val) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Larsen syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
A1643V (p.Ala1643Val) variant details
- p.Ala1643Val
- rs868820857
- ClinGen CA75461448
- ClinVar RCV000856788
- Ensembl rs868820857
- Pathogenic
- Larsen syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.93
- MetaLR 0.85
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Larsen syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FLNB-Related Disorders. (PMID 20301736)