I82T (p.Ile82Thr) variant of CREBBP (CREB-binding protein)
I82T (p.Ile82Thr) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
I82T (p.Ile82Thr) variant details
- p.Ile82Thr
- gnomAD rs1323691487
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.31
- CADD 22.60
- PolyPhen-2 0.34
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available