Q69K (p.Gln69Lys) variant of CREBBP (CREB-binding protein)
Q69K (p.Gln69Lys) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Q69K (p.Gln69Lys) variant details
- p.Gln69Lys
- TOPMed rs1465658343
- gnomAD rs1465658343
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.54
- CADD 26.10
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available