V89E (p.Val89Glu) variant of CREBBP (CREB-binding protein)
V89E (p.Val89Glu) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
V89E (p.Val89Glu) variant details
- p.Val89Glu
- TOPMed rs1257025481
- gnomAD rs1257025481
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.45
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available