A64T (p.Ala64Thr) variant of CREBBP (CREB-binding protein)
A64T (p.Ala64Thr) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A64T (p.Ala64Thr) variant details
- p.Ala64Thr
- ExAC rs754855364
- gnomAD rs754855364
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.48
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available