T1977I (p.Thr1977Ile) variant of MTOR (P42345)
T1977I (p.Thr1977Ile) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of MTOR-related megalencephaly and pigmentary mosaicism in skin; CEBALID syndrome. The record also includes published literature and structural context.
T1977I (p.Thr1977Ile) variant details
- p.Thr1977Ile
- rs587777893
- ClinGen CA338394654
- NCI-TCGA Cosmic COSV6386
- cosmic curated COSV63868
- Pathogenic
- MTOR-related megalencephaly and pigmentary mosaicism in skin; CEBALID syndrome
- Missense
- ClinVar: Pathogenic (MTOR-related megalencephaly and pigmentary mosaicism in skin; CE)
- EBI: Pathogenic (in FCORD2)
- UniProt: Pathogenic (in FCORD2)
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: Smith-Kingsmore Syndrome. (PMID 41264764)