E26V (p.Glu26Val) variant of SPTBN4 (Q9H254)
E26V (p.Glu26Val) in SPTBN4 (Q9H254) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
E26V (p.Glu26Val) variant details
- p.Glu26Val
- TOPMed rs2079899241
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available