E227K (p.Glu227Lys) variant of FLNB (Filamin-B)
E227K (p.Glu227Lys) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Larsen syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E227K (p.Glu227Lys) variant details
- p.Glu227Lys
- rs80356508
- ClinGen CA130018
- ClinVar RCV000030662
- ClinVar RCV001582470
- Pathogenic
- not provided; Larsen syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.85
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Larsen syndrome)
- EBI: Pathogenic (in LRS)
- UniProt: Pathogenic (in LRS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)