P1675S (p.Pro1675Ser) variant of TSC2 (Tuberin)
P1675S (p.Pro1675Ser) 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 experimental measurements and structural context.
P1675S (p.Pro1675Ser) variant details
- p.Pro1675Ser
- Ensembl rs2151612606
- Likely pathogenic
- Tuberous sclerosis 2
- Missense
- ClinVar: Likely pathogenic (Tuberous sclerosis 2)
- UniProt: Likely pathogenic (in TSC2)
- Structural context available
- TSC2 functional assay using prime editing in HAP1s: score -0.268