V705G (p.Val705Gly) variant of TSC2 (Tuberin)
V705G (p.Val705Gly) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis 2. The record also includes structural context.
V705G (p.Val705Gly) variant details
- p.Val705Gly
- Ensembl rs397515068
- Likely pathogenic
- Tuberous sclerosis 2
- Missense
- ClinVar: Likely pathogenic (Tuberous sclerosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available