R213L (p.Arg213Leu) variant of FOXI1 (Forkhead box protein I1)
R213L (p.Arg213Leu) in FOXI1 (Forkhead box protein I1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Sensorineural hearing loss disorder. The record also includes structural context.
R213L (p.Arg213Leu) variant details
- p.Arg213Leu
- ESP rs377532550
- ExAC rs377532550
- gnomAD rs377532550
- Likely pathogenic
- Sensorineural hearing loss disorder
- Missense
- ClinVar: Likely pathogenic (Sensorineural hearing loss disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available