E837K (p.Glu837Lys) variant of CHD8 (Q9HCK8)
E837K (p.Glu837Lys) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Intellectual developmental disorder with autism and macrocephaly.
E837K (p.Glu837Lys) variant details
- p.Glu837Lys
- cosmic curated COSV67871
- Likely pathogenic
- Intellectual developmental disorder with autism and macrocephaly
- Missense
- ClinVar: Likely pathogenic (Intellectual developmental disorder with autism and macrocephaly)
- UniProt: Likely pathogenic