L50V (p.Leu50Val) variant of SIX1 (Homeobox protein SIX1)
L50V (p.Leu50Val) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- TOPMed rs1232263034
- gnomAD rs1232263034
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.182