E1799K (p.Glu1799Lys) variant of MTOR (P42345)
E1799K (p.Glu1799Lys) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Isolated focal cortical dysplasia type II; Macrocephaly-intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E1799K (p.Glu1799Lys) variant details
- p.Glu1799Lys
- rs863225264
- ClinGen CA279594
- NCI-TCGA Cosmic COSV6386
- cosmic curated COSV63869
- Pathogenic
- Isolated focal cortical dysplasia type II; Macrocephaly-intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.64
- CADD 25.00
- PolyPhen-2 0.46
- SIFT 0.08
- ClinVar: Pathogenic (Isolated focal cortical dysplasia type II; Macrocephaly-intellec)
- EBI: Pathogenic (in SKS)
- UniProt: Pathogenic (in SKS)
- Population evidence available
- Structural context available
- Cited in: A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and… (PMID 25851998)
- Cited in: Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and… (PMID 26542245)