S27R (p.Ser27Arg) variant of CREBBP (CREB-binding protein)
S27R (p.Ser27Arg) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S27R (p.Ser27Arg) variant details
- p.Ser27Arg
- gnomAD rs2055489060
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.28
- CADD 26.10
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available