V709D (p.Val709Asp) variant of TSC2 (Tuberin)
V709D (p.Val709Asp) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Tuberous sclerosis 2. The record also includes structural context.
V709D (p.Val709Asp) variant details
- p.Val709Asp
- gnomAD rs1326276839
- Likely pathogenic
- not provided; Tuberous sclerosis 2
- Missense
- ClinVar: Likely pathogenic (not provided; Tuberous sclerosis 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available