K32E (p.Lys32Glu) variant of ADNP (Q9H2P0)
K32E (p.Lys32Glu) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The record also includes experimental measurements and structural context.
K32E (p.Lys32Glu) variant details
- p.Lys32Glu
- rs2515621268
- ClinGen CA408982192
- ClinVar RCV003547133
- Likely benign
- not provided
- Missense
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- ADNP Homeobox domain domainome 1.0: score 0.114