D8H (p.Asp8His) variant of TSC2 (Tuberin)
D8H (p.Asp8His) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
D8H (p.Asp8His) variant details
- p.Asp8His
- cosmic curated COSV10587
- Ensembl rs1596233815
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available