K66R (p.Lys66Arg) variant of CREBBP (CREB-binding protein)
K66R (p.Lys66Arg) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
K66R (p.Lys66Arg) variant details
- p.Lys66Arg
- TOPMed rs2054820935
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.38
- CADD 26.50
- PolyPhen-2 0.87
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available