A24S (p.Ala24Ser) variant of CREBBP (CREB-binding protein)
A24S (p.Ala24Ser) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A24S (p.Ala24Ser) variant details
- p.Ala24Ser
- ExAC rs762331442
- gnomAD rs762331442
- Missense
- Variant Prioritization Score for Impact Estimate 0.0815
- CADD 0.12
- Population evidence available
- Structural context available