S71W (p.Ser71Trp) variant of CREBBP (CREB-binding protein)
S71W (p.Ser71Trp) 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 CREBBP-related disorder. The record also includes structural context.
S71W (p.Ser71Trp) variant details
- p.Ser71Trp
- Ensembl rs2141496254
- Uncertain significance
- CREBBP-related disorder
- Missense
- ClinVar: Uncertain significance (CREBBP-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available