D100Y (p.Asp100Tyr) variant of ADNP (Q9H2P0)
D100Y (p.Asp100Tyr) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
D100Y (p.Asp100Tyr) variant details
- p.Asp100Tyr
- rs2122764922
- ClinGen CA408979525
- ClinVar RCV001732575
- Ensembl rs2122764922
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available