Q104R (p.Gln104Arg) variant of CREBBP (CREB-binding protein)
Q104R (p.Gln104Arg) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q104R (p.Gln104Arg) variant details
- p.Gln104Arg
- gnomAD rs1356986971
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.38
- CADD 22.60
- PolyPhen-2 0.54
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available