T28A (p.Thr28Ala) variant of CREBBP (CREB-binding protein)
T28A (p.Thr28Ala) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T28A (p.Thr28Ala) variant details
- p.Thr28Ala
- gnomAD rs1289100849
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.21
- CADD 20.70
- PolyPhen-2 0.02
- SIFT 0.58
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available