S78R (p.Ser78Arg) variant of CREBBP (CREB-binding protein)
S78R (p.Ser78Arg) in CREBBP (CREB-binding protein) 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.
S78R (p.Ser78Arg) variant details
- p.Ser78Arg
- ExAC rs764774054
- gnomAD rs764774054
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available