T42N (p.Thr42Asn) variant of FLNB (Filamin-B)
T42N (p.Thr42Asn) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes experimental measurements and structural context.
T42N (p.Thr42Asn) variant details
- p.Thr42Asn
- Ensembl rs965535331
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.511