L50F (p.Leu50Phe) variant of SIX1 (Homeobox protein SIX1)
L50F (p.Leu50Phe) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Branchiootic syndrome 3. The record also includes experimental measurements and structural context.
L50F (p.Leu50Phe) variant details
- p.Leu50Phe
- TOPMed rs1232263034
- gnomAD rs1232263034
- Uncertain significance
- Branchiootic syndrome 3
- Missense
- ClinVar: Uncertain significance (Branchiootic syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.182