P12A (p.Pro12Ala) variant of CREBBP (CREB-binding protein)
P12A (p.Pro12Ala) in CREBBP (CREB-binding protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P12A (p.Pro12Ala) variant details
- p.Pro12Ala
- Ensembl rs2055490745
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available