K120E (p.Lys120Glu) variant of FLNA (Filamin-A)
K120E (p.Lys120Glu) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FLNA-related disorder. The record also includes structural context.
K120E (p.Lys120Glu) variant details
- p.Lys120Glu
- rs2522771207
- ClinGen CA415254184
- ClinVar RCV004536763
- Uncertain significance
- FLNA-related disorder
- Missense
- ClinVar: Uncertain significance (FLNA-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available