A27V (p.Ala27Val) variant of TSC1 (Hamartin)
A27V (p.Ala27Val) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- Ensembl rs2132294347
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available