A2S (p.Ala2Ser) variant of CREBBP (CREB-binding protein)
A2S (p.Ala2Ser) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- ExAC rs757085278
- gnomAD rs757085278
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.54
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available