N50K (p.Asn50Lys) variant of ADNP (Q9H2P0)
N50K (p.Asn50Lys) 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.
N50K (p.Asn50Lys) variant details
- p.Asn50Lys
- rs771310564
- ClinGen CA408981543
- ClinVar RCV002306394
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available