I342N (p.Ile342Asn) variant of TSC2 (Tuberin)
I342N (p.Ile342Asn) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis 2. The record also includes structural context.
I342N (p.Ile342Asn) variant details
- p.Ile342Asn
- Ensembl rs2151136089
- Likely pathogenic
- Tuberous sclerosis 2
- Missense
- ClinVar: Likely pathogenic (Tuberous sclerosis 2)
- UniProt: Likely pathogenic
- Structural context available