G85R (p.Gly85Arg) variant of CREBBP (CREB-binding protein)
G85R (p.Gly85Arg) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G85R (p.Gly85Arg) variant details
- p.Gly85Arg
- ExAC rs763002215
- TOPMed rs763002215
- gnomAD rs763002215
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.45
- CADD 25.50
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available