N4K (p.Asn4Lys) variant of CREBBP (CREB-binding protein)
N4K (p.Asn4Lys) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of See cases. The record also includes structural context.
N4K (p.Asn4Lys) variant details
- p.Asn4Lys
- ExAC rs753627831
- gnomAD rs753627831
- Uncertain significance
- See cases
- Missense
- ClinVar: Uncertain significance (See cases)
- UniProt: Uncertain significance
- Structural context available