E54K (p.Glu54Lys) variant of ADNP (Q9H2P0)
E54K (p.Glu54Lys) in ADNP (Q9H2P0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- NCI-TCGA Cosmic COSV6242
- cosmic curated COSV62425
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available