V28I (p.Val28Ile) variant of TSC1 (Hamartin)
V28I (p.Val28Ile) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
V28I (p.Val28Ile) variant details
- p.Val28Ile
- Ensembl rs1588363318
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available