R14I (p.Arg14Ile) variant of CREBBP (CREB-binding protein)
R14I (p.Arg14Ile) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R14I (p.Arg14Ile) variant details
- p.Arg14Ile
- gnomAD rs1166925008
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.70
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available