Q97H (p.Gln97His) variant of CREBBP (CREB-binding protein)
Q97H (p.Gln97His) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q97H (p.Gln97His) variant details
- p.Gln97His
- gnomAD rs1249950865
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.38
- CADD 17.60
- PolyPhen-2 0.84
- SIFT 0.36
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available