T1977R (p.Thr1977Arg) variant of MTOR (P42345)
T1977R (p.Thr1977Arg) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p. The record also includes structural context.
T1977R (p.Thr1977Arg) variant details
- p.Thr1977Arg
- rs587777893
- ClinGen CA338394655
- NCI-TCGA Cosmic COSV6386
- Pathogenic
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p
- Missense
- ClinVar: Pathogenic (Overgrowth syndrome and/or cerebral malformations due to abnorma)
- EBI: Pathogenic (in FCORD2)
- UniProt: Pathogenic (in FCORD2)
- Structural context available