N197K (p.Asn197Lys) variant of FLNB (Filamin-B)
N197K (p.Asn197Lys) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Larsen syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
N197K (p.Asn197Lys) variant details
- p.Asn197Lys
- rs1274950884
- ClinGen CA353333866
- ClinVar RCV002238707
- gnomAD rs1274950884
- Likely pathogenic
- Larsen syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Likely pathogenic (Larsen syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FLNB-Related Disorders. (PMID 20301736)