T28I (p.Thr28Ile) variant of CREBBP (CREB-binding protein)
T28I (p.Thr28Ile) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T28I (p.Thr28Ile) variant details
- p.Thr28Ile
- Ensembl rs2141615923
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.35
- CADD 24.10
- PolyPhen-2 0.22
- SIFT 0.15
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available