S94P (p.Ser94Pro) variant of CLN3 (Battenin)
S94P (p.Ser94Pro) in CLN3 (Battenin) 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.
S94P (p.Ser94Pro) variant details
- p.Ser94Pro
- Ensembl rs1033393002
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available