I215N (p.Ile215Asn) variant of FLNB (Filamin-B)
I215N (p.Ile215Asn) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Atelosteogenesis type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
I215N (p.Ile215Asn) variant details
- p.Ile215Asn
- rs2097209399
- ClinGen CA353333994
- ClinVar RCV001199171
- Ensembl rs2097209399
- Likely pathogenic
- Atelosteogenesis type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Atelosteogenesis type III)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FLNB-Related Disorders. (PMID 20301736)