S62L (p.Ser62Leu) variant of ADNP (Q9H2P0)
S62L (p.Ser62Leu) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ADNP-related multiple congenital anomalies - intellectual disability - autism sp. The record also includes published literature and structural context.
S62L (p.Ser62Leu) variant details
- p.Ser62Leu
- rs2515616031
- ClinGen CA408981429
- ClinVar RCV003225782
- Uncertain significance
- ADNP-related multiple congenital anomalies - intellectual disability - autism sp
- Missense
- ClinVar: Uncertain significance (ADNP-related multiple congenital anomalies - intellectual disabi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ADNP-Related Helsmoortel-Van der Aa Syndrome. (PMID 27054228)