L321F (p.Leu321Phe) variant of CUL3 (Cullin-3)
L321F (p.Leu321Phe) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Neurodevelopmental disorder with or without autism or seizures. The record also includes structural context.
L321F (p.Leu321Phe) variant details
- p.Leu321Phe
- NCI-TCGA Cosmic COSV5236
- cosmic curated COSV52366
- Ensembl rs1043328412
- Likely pathogenic
- Neurodevelopmental disorder with or without autism or seizures
- Missense
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with or without autism or seizures)
- UniProt: Likely pathogenic
- Structural context available