E102Q (p.Glu102Gln) variant of ADNP (Q9H2P0)
E102Q (p.Glu102Gln) in ADNP (Q9H2P0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes population frequency data and structural context.
E102Q (p.Glu102Gln) variant details
- p.Glu102Gln
- rs1231041828
- NCI-TCGA Cosmic COSV6242
- cosmic curated COSV62425
- gnomAD rs1231041828
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available