N88Y (p.Asn88Tyr) variant of CREBBP (CREB-binding protein)
N88Y (p.Asn88Tyr) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
N88Y (p.Asn88Tyr) variant details
- p.Asn88Tyr
- gnomAD rs2054819091
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.52
- CADD 24.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available