K1452N (p.Lys1452Asn) variant of MTOR (P42345)
K1452N (p.Lys1452Asn) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes published literature and structural context.
K1452N (p.Lys1452Asn) variant details
- p.Lys1452Asn
- rs1644348291
- ClinGen CA338372112
- NCI-TCGA Cosmic COSV6386
- ClinVar RCV001260504
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)