S51I (p.Ser51Ile) variant of GBA1 (P04062)
S51I (p.Ser51Ile) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The record also includes structural context.
S51I (p.Ser51Ile) variant details
- p.Ser51Ile
- rs2524847580
- ClinGen CA342728346
- ClinVar RCV003989770
- ClinVar RCV004067417
- Uncertain significance
- not specified; not provided
- Missense
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available