L823W (p.Leu823Trp) variant of ADNP (Q9H2P0)
L823W (p.Leu823Trp) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ADNP-related multiple congenital anomalies - intellectual disability - autism sp. The record also includes published literature and structural context.
L823W (p.Leu823Trp) variant details
- p.Leu823Trp
- rs2515578225
- ClinGen CA408969395
- ClinVar RCV003991505
- Likely pathogenic
- ADNP-related multiple congenital anomalies - intellectual disability - autism sp
- Missense
- ClinVar: Likely pathogenic (ADNP-related multiple congenital anomalies - intellectual disabi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ADNP-Related Helsmoortel-Van der Aa Syndrome. (PMID 27054228)