S802F (p.Ser802Phe) variant of ADNP (Q9H2P0)
S802F (p.Ser802Phe) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of ADNP-related multiple congenital anomalies - intellectual disability - autism sp. The record also includes structural context.
S802F (p.Ser802Phe) variant details
- p.Ser802Phe
- cosmic curated COSV62425
- Likely pathogenic
- ADNP-related multiple congenital anomalies - intellectual disability - autism sp
- Missense
- ClinVar: Likely pathogenic (ADNP-related multiple congenital anomalies - intellectual disabi)
- UniProt: Likely pathogenic
- Structural context available