Y598N (p.Tyr598Asn) variant of TSC2 (Tuberin)
Y598N (p.Tyr598Asn) 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 syndrome. The record also includes structural context.
Y598N (p.Tyr598Asn) variant details
- p.Tyr598Asn
- Ensembl rs45517201
- Likely pathogenic
- Tuberous sclerosis syndrome
- Missense
- ClinVar: Likely pathogenic (Tuberous sclerosis syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available